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Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Feb 2020

Pagin A, Sermet-Gaudelus I, Burgel P-R

Abstract excerpt

Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis....

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PMID: 32172933
DOI: 10.1016/S0929-693X(20)30047-6

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