Article
[Cystic fibrosis modifying genes].
Pneumologie (Stuttgart, Germany) - 1 Jun 2005
Knauer N, Ratjen F, Grasemann H
Abstract excerpt
Cystic fibrosis is a common autosomal recessive disease that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene encodes a membrane-bound chloride ion channel. CFTR gene mutations cause alterations in fluid and salt secretion of various tissues. The CF phenotype is highly variable even in siblings and twins carrying the same CFTR mutations. The course of CF...
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