Article
[Identification of mutation in the gene cystic fibrosis transmembrane regulator (CFTR) in Chilean patients with cystic fibrosis].
Revista medica de Chile - 1 Aug 2001
Repetto G, Poggi H, Harris P, Navarro H, Sánchez I, Guiraldes E, Pérez M A, Boza M L, Hunter B, Wevar M E, Mediavilla M, Foradori A
Abstract excerpt
BACKGROUND: Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene, that codes for a chloride channel located in the apical surface of epithelial cells. The main role of this protein is the regulation of chloride transport, and secondarily, of sodium and water to the extracellular space. More than 900 gene mutations have been described, and their relative frequency in...
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