Mutation Details for c.274-3T>C
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cDNA Name
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c.274-3T>C
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Exon or Intron
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intron 3
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Legacy Exon or Intron
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intron 3
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406-3T->C
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Other Details
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The mutation was detected by DGGE and DNA sequencing. The second mutation of this patient was described as K68E. The patient showed lung disease at age of 29 months. His sweat chloride was 60 meq/l.
The DGGE primers were supplied by the European Community Concerted Action for the Coordination of Cystic Fibrosis Research and Therapy
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Contributors
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Kilinc O,
Arikan Z,
Altinoz S,
Tolun A
1998-03-23
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Institute
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Bogazici University
Istanbul, Turkey
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Submitted Phenotype Details
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The patient (12, male) was diagnosed at 14 months, is PS, has mild lung disease and sweat chloride 60 mmol/l. He carries K68E on the other allele.
(pers. corr. Kilinc)
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Reference
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Kilinc et al. (NL#70)
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