Mutation Details for c.1624G>T

cDNA Name c.1624G>T 
Protein Name p.Gly542X 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name G542X 
Other Details The single chromosome carrying this mutation is of Ashkenazic Jewish origin and has the B haplotype. The mutant sequence can be detected by hybridization analysis with allele-specific oligonucleotides on genomic DNA amplified by PCR with the 11i-5 and 11i-3 oligonucleotide primers. The mutation is not detected in 52 other non-[delta]F508 CF chromosomes, 11 of which are of Jewish origin, nor in 13 normal chromosomes. 
Contributors Kerem B, Tsui LC   1990-02-09
Institute The Hospital for Sick Children Toronto, ON, Canada 
Phenotype Information CFTR2
Reference Kerem et al. 1990 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  •   Correlation between genotype and phenotype in patients with cystic fibrosis. The Cystic Fibrosis Genotype-Phenotype Consortium.   1993 010 28;329(18):1308-13
  • Abeliovich D, Lavon IP, Lerer I, Cohen T, Springer C, Avital A, Cutting GR   Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.   1992 011;51(5):951-6
  • Abeliovich D, Quint A, Weinberg N, Verchezon G, Lerer I, Ekstein J, Rubinstein E   Cystic fibrosis heterozygote screening in the Orthodox Community of Ashkenazi Jews: the Dor Yesharim approach and heterozygote frequency.   1996;4(6):338-41
  • Amosenko FA, Trubnikova IS, Zakhar'ev VM, Bannikov VM, Sazonova MA, Petrova NV, Kapranov NI, Kaplinin VN   [TUB9 polymorphism in the CFTR gene of cystic fibrosis patients, carriers, and healthy donors from the Moscow region. SSCP and restriction analyses].   1997 002;33(2):257-61
  • Angelicheva D, Calafell F, Savov A, Jordanova A, Kufardjieva A, Galeva I, Nedkova V, Ivanova T, Yankova P, Konstantinova D, Genev E, Kalaydjieva L   Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study.   1997 004;99(4):513-20
  • Anvret M, Dahl N   [Diagnosis of cystic fibrosis with DNA techniques].   1991 001 30;88(5):316-7
  • Artlich A, Boysen A, Bunge S, Entzian P, Schlaak M, Schwinger E   Common CFTR mutations are not likely to predispose to chronic bronchitis in northern Germany.   1995 002;95(2):226-8
  • Augarten A, Hacham S, Kerem E, Sheva Kerem B, Szeinberg A, Laufer J, Doolman R, Altshuler R, Blau H, Bentur L, et al   The significance of sweat Cl/Na ratio in patients with borderline sweat test.   1995 012;20(6):369-71
  • Augarten A, Katznelson D, Dubenbaum L, Doolman R, Sela BA, Lusky A, Szeinberg A, Kerem BS, Paret G, Gazit E, Sack J, Yahav Y   Serum lipase levels pre and post Lundh meal: evaluation of exocrine pancreatic status in cystic fibrosis.   1998;28(4):226-9
  • Augarten A, Shmilovich H, Doolman R, Aviram M, Akons H, Ben Tur L, Blau H, Kerem E, Rivlin J, Sela BA, Szeinberg A, Yahav Y   Serum lipase levels as a diagnostic marker in cystic fibrosis patients with normal or borderline sweat tests.   2000 010;30(4):320-3
  • Axton RA, Brock DJ   Use of stable dye-DNA intercalating complexes to detect cystic fibrosis mutations.   1994 006;8(3):245-50
  • Axton RA, Brock DJ   A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations.   1995;5(3):260-2
  • Bayleran JK, Yan H, Hopper CA, Simpson EM   Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry.   1996 008;98(2):207-9
  • Bedwell DM, Kaenjak A, Benos DJ, Bebok Z, Bubien JK, Hong J, Tousson A, Clancy JP, Sorscher EJ   Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line.   1997 011;3(11):1280-4
  • Bernardino AL, Ferri A, Passos-Bueno MR, Kim CE, Nakaie CM, Gomes CE, Damaceno N, Zatz M   Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.   2000;4(1):69-74
  • Borrego S, Casals T, Dapena J, Fernandez E, Gimenez J, Cabeza JC, Sanchez J, Antinolo G   Molecular and clinical analyses of cystic fibrosis in the south of Spain.   1994 010;46(4):287-90
  • Brock DJ, Gilfillan A, Holloway S   The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies.   1998 001;53(1):47-9
  • Cabello GM, Moreira AF, Horovitz D, Correia P, Santa Rosa A, Llerena J, Greg J, Grody WW, Degrave WM, Fernandes O, Cabello PH   Cystic fibrosis: low frequency of DF508 mutation in 2 population samples from Rio de Janeiro, Brazil.   1999 004;71(2):189-96
  • Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X   Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.   1996 003;16(3):215-22
  • Casals T, Nunes V, Palacio A, Gimenez J, Gaona A, Ibanez N, Morral N, Estivill X   Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area.   1993 003;91(1):66-70
  • Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Raia V, Scarpa M, Goossens M, Salvatore F   Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations.   1999 007;45(7):957-62
  • Castaldo G, Rippa E, Salvatore D, Sibillo R, Raia V, de Ritis G, Salvatore F   Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation.   1997 003 17;69(2):155-8
  • Castaldo G, Rippa E, Sebastio G, Raia V, Ercolini P, de Ritis G, Salvatore D, Salvatore F   Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure.   1996 006;33(6):475-9
  • Cheadle J, Myring J, al-Jader L, Meredith L   Mutation analysis of 184 cystic fibrosis families in Wales.   1992 009;29(9):642-6
  • Chehab FF, Wall J   Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening.   1992 005;89(2):163-8
  • Chertkoff L, Visich A, Bienvenu T, Grenoville M, Segal E, Carniglia L, Kaplan JC, Barreiro C   Spectrum of CFTR mutations in Argentine cystic fibrosis patients.   1997 001;51(1):43-7
  • Chevalier-Porst F, Bonardot AM, Gilly R, Chazalette JP, Mathieu M, Bozon D   Mutation analysis in 600 French cystic fibrosis patients.   1994 007;31(7):541-4
  • Chillon M, Casals T, Gimenez J, Nunes V, Estivill X   Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).   1994;3(3):223-30
  • Chillon M, Casals T, Gimenez J, Ramos MD, Palacio A, Morral N, Estivill X, Nunes V   Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.   1994 004;93(4):447-51
  • Clancy JP, Hong JS, Bebok Z, King SA, Demolombe S, Bedwell DM, Sorscher EJ   Cystic fibrosis transmembrane conductance regulator (CFTR) nucleotide-binding domain 1 (NBD-1) and CFTR truncated within NBD-1 target to the epithelial plasma membrane and increase anion permeability.   1998 010 27;37(43):15222-30
  • Claustres M, Desgeorges M, Kjellberg P, Tissot C, Demaille J   Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.   1992 012;90(4):464-6
  • Claustres M, Desgeorges M, Moine P, Morral N, Estivill X   CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France.   1996 009;98(3):336-44
  • Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD   Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.   2000;16(2):143-56
  • Collee JM, de Vries HG, Scheffer H, Halley DJ, ten Kate LP   Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country.   1998 005;102(5):587-90
  • Colombo C, Apostolo MG, Ferrari M, Seia M, Genoni S, Giunta A, Sereni LP   Analysis of risk factors for the development of liver disease associated with cystic fibrosis.   1994 003;124(3):393-9
  • Coto E, Bousono C, Menendez MJ, Cue R, Toral JF, Benavides A, Hernando I, Plasencia A, Lopez-Larrea C   [Cystic fibrosis in Asturias: an elevated frequency of the delta F508 mutation].   1994 011 26;103(18):681-3
  • Coutelle C, Bruckner R, Grade K, Behrens F, Gedschold J, Hein J, Szibor R, Bauer I, Brock J, Graupner I, et al   Prevalence of cystic fibrosis mutations in the East German population.   1992;1(2):109-12
  • Cuppens H, Teng H, Raeymaekers P, De Boeck C, Cassiman JJ   CFTR haplotype backgrounds on normal and mutant CFTR genes.   1994 004;3(4):607-14
  • Dabovic BB, Radojkovic D, Minic P, Savic J, Savic A   Frequency of the delta F508 deletion and G551D, R553X and G542X mutations in Yugoslav CF patients.   1992 003;88(6):699-700
  • Dawson KP, Frossard PM   The geographic distribution of cystic fibrosis mutations gives clues about population origins.   2000 007;159(7):496-9
  • Desgeorges M, Laussel M, Rollin B, Demaille J, Claustres M   Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.   1994 001;31(1):84-5
  • Deufel T, Rabe H, Wieser T, Meitinger T, Rosenecker J, Bertele-Harms R, Harms K, Hadorn HB, Roscher AA   Mutation analysis in the diagnosis of cystic fibrosis.   1993 011;152(11):909-11
  • Endreffy E, Laszlo , Szabo A, Roman F, Kurti K, Kalman M, Rasko I   Molecular genetic studies in monogenic and polygenic human diseases.   1997;48(1):121-8
  • Entzian P, Muller E, Boysen A, Artlich A, Schwinger E, Schlaak M   Frequency of common cystic fibrosis gene mutations in chronic bronchitis patients.   1995 005;55(3):263-6
  • Estivill X, Bancells C, Ramos C   Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.   1997;10(2):135-54
  • Feingold J, Guilloud-Bataille M   Genetic comparisons of patients with cystic fibrosis with or without meconium ileus. Clinical Centers of the French CF Registry.   1999;42(3):147-50
  • Ferec C, Verlingue C, Guillermit H, Quere I, Raguenes O, Feigelson J, Audrezet MP, Moullier P, Mercier B   Genotype analysis of adult cystic fibrosis patients.   1993 010;2(10):1557-60
  • Ferrie RM, Schwarz MJ, Robertson NH, Vaudin S, Super M, Malone G, Little S   Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.   1992 008;51(2):251-62
  • Flores-Martinez SE, Dean M, Saiki RK, Gallegos-Arreola MP, Moran-Moguel MC, Sanchez-Corona J   Molecular analysis of northwestern Mexican patients with cystic fibrosis: screening of 10 known mutations. Mutations in brief no. 185. Online.   1998;12(3):217-8
  • Fortina P, Conant R, Monokian G, Dotti G, Parrella T, Hitchcock W, Kant J, Scanlin T, Rappaport E, Schwartz E, et al   Non-radioactive detection of the most common mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex allele-specific polymerase chain reaction.   1992 012;90(4):375-8
  • Fugger EF, Maddalena A, Schulman JD   Results of retroactive testing of human semen donors for cystic fibrosis and human immunodeficiency virus by polymerase chain reaction.   1993 009;8(9):1435-7
  • Gaillard DA, Carre-Pigeon F, Lallemand A   Normal vas deferens in fetuses with cystic fibrosis.   1997 010;158(4):1549-52
  • Gasparini P, Arbustini E, Restagno G, Zelante L, Stanziale P, Gatta L, Sbaiz L, Sedita AM, Banchieri N, Sapone L, Fiorucci GC, Brinson E, Shulse E, Rappaport E, Fortina P   Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis.   1999;6(2):67-9
  • Gasparini P, Bonizzato A, Dognini M, Pignatti PF   Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations.   1992 002;6(1):1-7
  • Gelfi C, Righetti PG, Magnani C, Cremonesi L, Ferrari M   Simultaneous detection of delta F508, G542X, N1303K and 1717-1G-->A mutations in cystic fibrosis by capillary electrophoresis in polymer networks.   1994 009;229(1-2):181-9
  • Goldman A, Jenkins T, Ramsay M   Analysis of 40 known cystic fibrosis mutations in South African patients.   1994 012;46(6):398-400
  • Goldman A, Labrum R, Claustres M, Desgeorges M, Guittard C, Wallace A, Ramsay M   The molecular basis of cystic fibrosis in South Africa.   2001 001;59(1):37-41
  • Grebe TA, Doane WW, Richter SF, Clericuzio C, Norman RA, Seltzer WK, Rhodes SN, Goldberg BE, Hernried LS, McClure M, et al   Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest.   1992 010;51(4):736-40
  • Grebe TA, Seltzer WK, DeMarchi J, Silva DK, Doane WW, Gozal D, Richter SF, Bowman CM, Norman RA, Rhodes SN, et al   Genetic analysis of Hispanic individuals with cystic fibrosis.   1994 003;54(3):443-6
  • Greil I, Wagner K, Eber E, Zach M, Rosenkranz W   Molecular and clinical findings in Austrian cystic fibrosis patients with mutations in exon 11 of the CFTR gene.   1995;107(15):464-9
  • Guilloud-Bataille M, De Crozes D, Rault G, Degioanni A, Feingold J   Cystic fibrosis mutations: report from the French Registry. The Clinical Centers of the CF.   2000 003-004;50(2):142-5
  • Guzman Martinez-Valls PL, Tomas Ros M, Glover Lopez G, Ferrero Doria R, Morga Egea JP, Navas Pastor J, Rico Galiano JL, Sempere Gutierrez A, Fontana Compiano LO   [Congenital bilateral agenesis of the vas deferens associated with cystic fibrosis. A molecular genetic study].   1998 006;51(5):451-5
  • Hakala H, Virta P, Salo H, Lonnberg H   Simultaneous detection of several oligonucleotides by time-resolved fluorometry: the use of a mixture of categorized microparticles in a sandwich type mixed-phase hybridization assay.   1998 012 15;26(24):5581-8
  • Hamosh A, Rosenstein BJ, Cutting GR   CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells.   1992 010;1(7):542-4
  • Heinonen P, Iitia A, Torresani T, Lovgren T   Simple triple-label detection of seven cystic fibrosis mutations by time-resolved fluorometry.   1997 007;43(7):1142-50
  • Hoffman RA, Floyd ME, Whetsell LH, Kramer JC, Schaefer FV   Cystic fibrosis in the southern Midwest United States: molecular characterization of the common mutations.   1994 002;307(2):82-5
  • Hughes D, Wallace A, Taylor J, Tassabehji M, McMahon R, Hill A, Nevin N, Graham C   Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes.   1996;8(3):229-35
  • Jalanko A, Kere J, Savilahti E, Schwartz M, Syvanen AC, Ranki M, Soderlund H   Screening for defined cystic fibrosis mutations by solid-phase minisequencing.   1992 001;38(1):39-43
  • Kadasi L, Polakova H, Zatkova A, Kayserova H   Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients.   1997 004;11(1):51-6
  • Kadasi L, Polakova H, Zatkova A, Kayserova H, Hruskovic I   [The spectrum of mutations in the CFTR gene in patients with cystic fibrosis in Slovakia].   1998 001;99(1):33-6
  • Kanavakis E, Tzetis M, Antoniadi T, Traeger-Synodinos J, Doudounakis S, Adam G, Matsaniotis N, Kattamis C   Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation.   1995 009;96(3):364-6
  • Kere J, Estivill X, Chillon M, Morral N, Nunes V, Norio R, Savilahti E, de la Chapelle A   Cystic fibrosis in a low-incidence population: two major mutations in Finland.   1994 002;93(2):162-6
  • Kostuch M, Semczuk A, Szarewicz-Adamczyk W, Gasowska-Giszczak U, Wojcierowski J, Kulczycki L   Detection of CFTR gene mutations in patients suffering from chronic bronchitis.   2000 001-002;31(1):97-100
  • Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui LC, Durie P   Genetic determination of exocrine pancreatic function in cystic fibrosis.   1992 006;50(6):1178-84
  • Lamy S, da Silva LP, Lopes B, Pacheco P, Lavinha J, Amaral JM, Marques JM   [Mucoviscidosis with respiratory symptomatology in the neonatal period].   1997 002-003;10(2-3):209-12
  • Laufer-Cahana A, Lerer I, Sagi M, Rachmilewitz-Minei T, Zamir C, Rivlin JR, Abeliovich D   Cystic fibrosis mutations in Israeli Arab patients.   1999 012;14(6):543
  • Lerer I, Sagi M, Cutting GR, Abeliovich D   Cystic fibrosis mutations delta F508 and G542X in Jewish patients.   1992 002;29(2):131-3
  • Lindner M, Wolf A, Moh B, Steinbach P, Kleihauer E, Bartram CR, Kulozik AE   The spectrum of CFTR mutations in south-west German cystic fibrosis patients.   1992 011;90(3):267-9
  • Loirat F, Hazout S, Lucotte G   G542X as a probable Phoenician cystic fibrosis mutation.   1997 006;69(3):419-25
  • Lucidi V, Novelli G, Castro M, Sangiuolo F, Papadatou B, Ferretti F, Orru M, Dallapiccola B   [The correlation between the genotype and the clinical expression of cystic fibrosis].   1992 009-010;14(5):513-5
  • Lucotte G, Hazout S   Geographic and ethnic distributions of the more frequent cystic fibrosis mutations in Europe show that a founder effect is apparent for several mutant alleles.   1995 008;67(4):562-76
  • Marchand E, Verellen-Dumoulin C, Mairesse M, Delaunois L, Brancaleone P, Rahier JF, Vandenplas O   Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and 5T Allele in Patients With Allergic Bronchopulmonary Aspergillosis.   2001 003;119(3):762-767
  • Mastella G, Rainisio M, Harms HK, Hodson ME, Koch C, Navarro J, Strandvik B, McKenzie SG   Allergic bronchopulmonary aspergillosis in cystic fibrosis. A European epidemiological study. Epidemiologic Registry of Cystic Fibrosis.   2000 009;16(3):464-71
  • Mercier B, Lissens W, Audrezet MP, Bonduelle M, Liebaers I, Ferec C   Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations.   1993;2(1):16-20
  • Mercier B, Raguenes O, Estivill X, Morral N, Kaplan GC, McClure M, Grebe TA, Kessler D, Pignatti PF, Marigo C, et al   Complete detection of mutations in cystic fibrosis patients of Native American origin.   1994 012;94(6):629-32
  • Mitchell J, Scriver CR, Clow CL, Kaplan F   What young people think and do when the option for cystic fibrosis carrier testing is available.   1993 007;30(7):538-42
  • Morral N, Dork T, Llevadot R, Dziadek V, Mercier B, Ferec C, Costes B, Girodon E, Zielenski J, Tsui LC, Tummler B, Estivill X   Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.   1996;8(2):149-59
  • Morral N, Nunes V, Casals T, Chillon M, Gimenez J, Bertranpetit J, Estivill X   Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.   1993 007;2(7):1015-22
  • Muller F, Dommergues M, Simon-Bouy B, Ferec C, Oury JF, Aubry MC, Bessis R, Vuillard E, Denamur E, Bienvenu T, Serre JL   Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.   1998 008;35(8):657-60
  • Mussaffi H, Greif J, Kornreich L, Ashkenazi S, Levy Y, Schonfeld T, Blau H   Severe allergic bronchopulmonary aspergillosis in an infant with cystic fibrosis and her asthmatic father.   2000 002;29(2):155-9
  • Nemeth K, Holics K, Ujhelyi R, Varadi A, Fekete G   [Analysis of five mutations of cystic fibrosis occurring in the Hungarian population].   1996 004 28;137(17):899-903
  • Nemeti M, Johnson JP, Papp Z, Louie E   The occurrence of various non-delta F508 CFTR gene mutations among Hungarian cystic fibrosis patients.   1992 005;89(2):245-6
  • Ng IS, Pace R, Richard MV, Kobayashi K, Kerem B, Tsui LC, Beaudet AL   Methods for analysis of multiple cystic fibrosis mutations.   1991 009;87(5):613-7
  • Nunes V, Gasparini P, Novelli G, Gaona A, Bonizzato A, Sangiuolo F, Balassopoulou A, Gimenez FJ, Dognini M, Ravnik-Glavac M, et al   Analysis of 14 cystic fibrosis mutations in five south European populations.   1991 010;87(6):737-8
  • Ober C, Lester LA, Mott C, Billstrand C, Lemke A, van der Ven K, Marcus S, Kraut J, Lloyd-Still J, Booth C   Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families.   1992 012;51(6):1344-8
  • Onay T, Topaloglu O, Zielenski J, Gokgoz N, Kayserili H, Camcioglu Y, Cokugras H, Akcakaya N, Apak M, Tsui LC, Kirdar B   Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).   1998 002;102(2):224-30
  • Petrova NV, Ginter EK, Kapranov NI, El'chinova GI   [Portion of certain cystic fibrosis gene mutations and linkage dysequilibrium between the CFTR-gene locus and two DNA marker loci in Russian populations].   1994 007;30(7):974-7
  • Petrova NV, Kapranov NI, Ginter EK   [Detection of frequent mutations of the CFTR gene in cystic fibrosis patients from Central Russia].   1997 001;33(1):106-9
  • Phillips OP, Bishop C, Woods D, Elias S   Cystic fibrosis mutations among African Americans in the southeastern United States.   1995 006;87(6):433-5
  • Phillips OP, Elias S, Woods D, Hanissian AS, Schoumacher RA, Bishop C   Cystic fibrosis mutations in white and black Americans: an approach to identification of unknown mutations with implications for cystic fibrosis screening.   1993 004;168(4):1076-82
  • Potapova OYu , Voronina OV, Gaitskhoki VS, Bogacheva EV, Uembitskaya TE, Kuprina EA, Kapranov NI, Berlin YuA , Schwartz EI   Identification of the linkage of mutations causing cystic fibrosis to different alleles of a tetranucleotide repeat in intron 6a of the CFTR gene.   1994 004;51(2):185-7
  • Rabbi-Bortolini E, Bernardino AL, Lopes AL, Ferri AS, Passos-Bueno MR, Zatz M   Sweat electrolyte and cystic fibrosis mutation analysis allows early diagnosis in Brazilian children with clinical signs compatible with cystic fibrosis.   1998 004 1;76(4):288-90
  • Ranieri E, Lewis BD, Gerace RL, Ryall RG, Morris CP, Nelson PV, Carey WF, Robertson EF   Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience.   1994 006 4;308(6942):1469-72
  • Raskin S, Phillips JA, Kaplan G, McClure M, Vnencak-Jones C   Cystic fibrosis genotyping by direct PCR analysis of Guthrie blood spots.   1992 011;2(2):154-6
  • Raskin S, Phillips JA, Kaplan G, McClure M, Vnencak-Jones C, Rozov T, Cardieri JM, Marostica P, Abreu F, Giugliani R, Reis F, Rosario NA, Ludwig N, Pereira L, Faucz F, Gabardo J, Culpi L   Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil.   1999 002;71(1):111-21
  • Reiss J, Ellermeyer U, Schloesser M, Fuhrmann W, Drews D, Posselt HG   Two cystic fibrosis patients with the genotype G542X/G551D.   1993 003;91(1):78-9
  • Rendine S, Calafell F, Cappello N, Gagliardini R, Caramia G, Rigillo N, Silvetti M, Zanda M, Miano A, Battistini F, Marianelli L, Taccetti G, Diana MC, Romano L, Romano C, Giunta A, Padoan R, Pianaroli A, Raia V, De Ritis G, Battistini A, Grzincich G, Japichino L, Pardo F, Piazza A, et al   Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution.   1997 009;61 ( Pt 5):411-24
  • Restrepo CM, Pineda L, Rojas-Martinez A, Gutierrez CA, Morales A, Gomez Y, Villalobos MC, Borjas L, Delgado W, Myers A, Barrera-Saldana HA   CFTR mutations in three Latin American countries.   2000 004 10;91(4):277-9
  • Rich DP, Gregory RJ, Cheng SH, Smith AE, Welsh MJ   Effect of deletion mutations on the function of CFTR chloride channels.   1993;1(3):221-32
  • Rolfini R, Cabrini G   Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.   1993 012;92(6):2683-7
  • Russo MP, Romeo G, Devoto M, Barbujani G, Cabrini G, Giunta A, D'Alcamo E, Leoni G, Sangiuolo F, Magnani C, et al   Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.   1995;5(1):23-7
  • Saleh MC, Botelli A, Melano de Botelli M, Rezzonico CA, Argarana CE   Cystic fibrosis: frequency of delta f508 and g542x mutations in Cordoba, Argentina.   1996;56(1):14-6
  • Sangiuolo F, Maceratesi P, Mesoraca A, Botta A, Cavicchini A, Novelli G, Dallapiccola B   Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay.   1995;25(3):142-5
  • Sazonova MA, Amosenko FA, Kapranov NI, Kalinin VN   [Molecular genetic analysis of TUB18 and TUB20 intragenic polymorphism and various mutations of the CFTR gene in the Moscow region].   1997 009;33(9):1303-7
  • Schloesser M, Arleth S, Lenz U, Bertele RM, Reiss J   A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.   1991 012;28(12):878-80
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The Database was last updated at Apr 25, 2011