Article
Ultrastructural localization of variant forms of cystic fibrosis transmembrane conductance regulator in human bronchial epithelial of xenografts.
American journal of respiratory cell and molecular biology - 1 Jul 1994
Yang Y, Engelhardt J F, Wilson J M
Abstract excerpt
Cystic fibrosis (CF) is caused by mutations in the gene encoding a cyclic adenosine monophosphate (cAMP)-regulated chloride (CI) channel called the CF transmembrane conductance regulator (CFTR). Previous in vitro studies have indicated that the most common mutation, delta F508 CFTR (a deletion of phenylalanine 508), encodes a protein that is trapped in the endoplasmic reticulum (ER), leading to loss of...
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