Article
[The cystic fibrosis gene, its product CFTR protein and its mutations].
Bulletin de l'Academie nationale de medecine - 1 Mar 1993
Goossens M, Fanen P, Costes B, Ghanem N
Abstract excerpt
Cystic fibrosis (CF) is a fatal genetic disease primarily affecting Caucasians. Its etiology is complex, but it is chiefly a disease of electrolyte transport characterized by defects in fluid secretion by several epithelia. In this review are analyzed the data obtained since the cloning of the CF gene and the characterization of its product, the CF transmembrane conductance regulator (CFTR) protein, which has...
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