Article
[From gene to disease; from defective chloride ion transport to cystic fibrosis].
Nederlands tijdschrift voor geneeskunde - 7 Apr 2001
Scheffer H, van den Ouweland A M, Veeze H J
Abstract excerpt
Cystic fibrosis is an autosomal recessive disorder affecting the lungs, pancreas, intestines, sweat ducts and liver, due to an abnormal salt transport across the apical border of epithelial cells. Mutations in the CF underlying gene, the cystic fibrosis transmembrane conductance regulator (CFTR) gene, result in most cell types in an misprocessing so that little of the protein reaches the membranes. In case of...
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