Journal Article

Rare CFTR Mutation 1525-1G〉A in a Pakistani Patient

Abdul Wahab, G. Al Thani, S. T. Dawod, M. Kambouris and M. Al Hamed

in Journal of Tropical Pediatrics

Volume 50, issue 2, pages 120-122
Published in print April 2004 | ISSN: 0142-6338
Published online April 2004 | e-ISSN: 1465-3664 | DOI: http://dx.doi.org/10.1093/tropej/50.2.120
Rare CFTR Mutation 1525-1G〉A in a Pakistani Patient

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Cystic fibrosis (CF) is rare in non-Caucasian populations, and in such populations little is known about the spectrum of mutations and polymorphisms in the cystic fibrosis transmembrane conductance (CFTR) gene. We report the detection of a very rare CFTR mutation 1525-1G〉A in intron 9 in a 5-year-old Pakistani child with typical clinical features of CF. It remains to be seen whether mutation 1525-1G〉A is characteristic of Pakistani ethnicity with CF or associated with severe phenotypic features.

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Subjects: Paediatrics

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