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- W2023933503 abstract "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." @default.
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- W2023933503 date "2004-04-01" @default.
- W2023933503 modified "2023-09-27" @default.
- W2023933503 title "Rare CFTR Mutation 1525-1G〉A in a Pakistani Patient" @default.
- W2023933503 doi "https://doi.org/10.1093/tropej/50.2.120" @default.
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