Article
Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations.
Human genetics - 1 Apr 1994
Dean M, Santis G
Abstract excerpt
Cystic fibrosis is a common, fatal disorder caused by abnormalities in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR encodes a chloride channel that regulates secretion in many exocrine tissues. The presentation of cystic fibrosis is highly variable as measured by the age of onset of disease, the presence of pancreatic insufficiency, or the progression of lung disease. Over 400...
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