cDNA Name
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c.4136+2t>G
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Exon or Intron
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Other Details
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This mutation was detected by DHPLC and confirmed by sequencing reaction
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Contributors and Institutes
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HADJ FREDJ Sondess and MESSAOUD Taieb- Laboratoire de Biochimie et de Biologie moléculaire- Hôpital d’Enfants de Tunis- Tunisie | - | |
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Submitted Phenotype Details
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This mutation was found in homozygous state in a 3 year-old girl with obstructive lung disease, pancreatic insufficiency and positive sweat test (141mM)
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Reference
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