Mutation Details for c.(?_744)_(2988_?)dup
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cDNA Name
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c.(?_744)_(2988_?)dup
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Exon or Intron
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exon 7 - exon 18
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Other Details
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The
mutation was detected by the MLPA method in a patient carrying a F508del
mutation
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Contributors and Institutes
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| Xavier Pepermans | - | Center for Human Genetics, Université Catholique de Louvain, Brussels, Belgium | | Fernando Antonio Ribeiro | - | Departamento de Pediatria, FCM/Unicamp, Campinas, Brazil | | Carmen Bertuzzo | - | Serviço de Genética, FCM/Unicamp, Campinas, Brazil | | Teresinha Leal | - | Center for Human Genetics, Université Catholique de Louvain, Brussels, Belgium |
2010-09-23
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Submitted Phenotype Details
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The patient is a 14 year old Brazilian girl,
diagnosed by age of 9 years with digestive and respiratory symptoms and
failure to thrive (weight and height below the 5th percentile). She has an
elevated sweat chloride test (Cl concentration between 94 and 117 mmol/L),
oxygen-dependent pulmonary disease with chronic colonization by
Pseudomonas aeruginosa and exocrine pancreatic insufficiency.
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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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