Article
Defects in processing and trafficking of cystic fibrosis transmembrane conductance regulator.
Experimental nephrology - 1 Jan 2000
Kunzelmann K, Nitschke R
Abstract excerpt
In most epithelial tissues Cl(-) transport relies on the cystic fibrosis transmembrane conductance regulator (CFTR) which has dual function as a Cl(-) channel and as a regulator of other ion channels. More than 900 different mutations in the CFTR gene are the cause for defective transport of Cl(-) and Na(+) and impaired secretion or absorption of electrolytes in cystic fibrosis. However, the CFTR mutation delta...
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