Mutation Details for c.3717+5G>A
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cDNA Name
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c.3717+5G>A
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Exon or Intron
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intron 22
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Legacy Exon or Intron
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intron 19
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3849+5G->A
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Other Details
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The mutation was detected by DGGE and DNA sequencing. The patient was homozygous for the mutation. His sweat chloride was 100 meq/l. He showed gastrointestinal symptoms and lung disease at age of 40 days.
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Contributors
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Kilinc O,
Demirkol M,
Baykal T,
Tolun A
1997-08-12
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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 homozygous male patient was diagnosed at 2 months of age for GI symptoms. He is PI, has severe lung disease and sweat chloride 100 mmol/l.(pers. corr. Kilinc)
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Reference
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Kilinc et al. (NL#70)
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