Article
Translating the genetics of cystic fibrosis to personalized medicine.
Translational research : the journal of laboratory and clinical medicine - 1 Feb 2016
Corvol Harriet, Thompson Kristin E, Tabary Olivier, le Rouzic Philippe, Guillot Loïc
Abstract excerpt
Cystic fibrosis (CF) is the most common life-threatening recessive genetic disease in the Caucasian population. This multiorgan disease is caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein, a chloride channel recognized as regulating several apical ion channels. The gene mutations result either in the lack of the protein at the apical surface or in an improperly...
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