Mutation Details for c.3439G>A
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cDNA Name
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c.3439G>A
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Protein Name
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p.Val1147Ile
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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V1147I
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Other Details
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This mutation was detected by DGGE and DNA sequencing. The patient is heterozygous for the mutation, He showed gastrointestinal symptoms, very frequent respiratory infections and heart problems. The disease symptoms appeared at the age of 7 months.
The DGGE primers were supplied by Michel Goossens on behalf of the European Community Concerted Action for Coordination of Cystic Fibrosis Research and Therapy.
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Contributors
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Kilinc O,
Aydogdu S,
Ozkmay F,
Tolun A
1998-02-17
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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 (8, male) was diagnosed at 12 months. He is PI, with severe lung disease, and has sweat chloride 95 mmol/l. He also has failure to thrive and heart disease.
(pers.corr Kilinc)
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Reference
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Kilinc et al. (NL#70)
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