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- W4239992052 endingPage "C18.10.P165" @default.
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- W4239992052 abstract "Abstract Cystic fibrosis (CF) is a recessively inherited disease caused by mutations in the cystic fibrosis gene, located on the long arm of chromosome 7, which codes for a membrane protein—the cystic fibrosis transmembrane regulator protein—that is a chloride channel. More than 2,000 CF mutations have been identified, with the ΔF508 mutation being the most common of around 200 mutations that definitely cause disease (70% of CF chromosomes in the European population). Birth incidence varies with country of origin from 1 in 2,000 to 1 in 100,000. The most popular hypothesis is that mutant cystic fibrosis transmembrane regulator protein fails to transport chloride ions normally, and there is secondary impairment of sodium, bicarbonate, and water transport." @default.
- W4239992052 created "2022-05-12" @default.
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- W4239992052 date "2020-03-01" @default.
- W4239992052 modified "2023-09-23" @default.
- W4239992052 title "Cystic fibrosis" @default.
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- W4239992052 doi "https://doi.org/10.1093/med/9780198746690.003.0413" @default.
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