Article
[Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes].
Ugeskrift for laeger - 24 Feb 2003
Schwartz Marianne
Abstract excerpt
Cystic fibrosis (CF) is caused by mutation in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. CF is characterised by chronic lung infections, pancreas insufficiency and, in males, congenital bilateral absence of the vas deferens (CBAVD). Furthermore, mutations in the CFTR are associated with several isolated, CF-related symptoms such as chronic lung diseases, CBAVD idiopathic pancreatitis and...
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