Article

Cystic fibrosis gene mutations: evaluation and assessment of disease severity

2014-10-01

Abstract excerpt

Abstract: The cystic fibrosis transmembrane regulator ( CFTR ) gene encodes an ion channel transporter, the CFTR protein. Since its identification in 1989, more than 1,900 sequence variants have been reported, resulting in a wide spectrum of clinical phenotypes. Cystic fibrosis (CF) is associated with many CFTR mutants and there is a continuum of disease severity observed. Recent advances in fundamental research h...

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Literature Corpus work: 42dd1aaa-cc99-5a90-b07e-2d5a9d6a44e9
DOI: 10.2147/agg.s53768

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