Mutation Details for c.1117-27_1117-26delTA
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cDNA Name
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c.1117-27_1117-26delTA
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Exon or Intron
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intron 8
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Legacy Exon or Intron
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intron 7
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1249-27delTA
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Other Details
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This mutation was found in a nine-year old patient with a diagnosis of ABPA. The patient also has central bronchiectasis, recurrent sinus infections, and pancreatitis. Sweat testing showed values of 46 and 49 mmol/L. Tests were negative for Pseudomonas. Screening of 16 common mutations ([delta]F508, R117H, W1282X, 621+1G->T, R334W, R347P, A455E, [delta]I507, 1717-1G->T, G542X, S549N, G551D, R553X, R560T, N1303K, 3849+10kbC->T) by reverse dot blot revealed the [delta]F508 mutation on one allele. The 1249-27delTA mutation was found after screening all 27 exons by DGGE and sequencing of the exon 8 region.
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Contributors
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Egan MM,
Wang X,
Cutting GR
1998-09-11
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Institute
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Johns Hopkins University, Baltimore, USA
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Submitted Phenotype Details
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Reference
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Egan et al. (NL#70)
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