Genotype and Phenotype in Cystic Fibrosis

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene which encodes a protein expressed in the apical membrane of exocrine epithelial cells. CFTR functions principally as a cAMP-induced chloride channel and appears capable of regulating other ion chann...

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Veröffentlicht in:	Respiration 2000, Vol.67 (2), p.117-133
1. Verfasser:	Zielenski, Julian
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Bronchiectasis - diagnosis Bronchiectasis - genetics Cystic Fibrosis - diagnosis Cystic Fibrosis - genetics Cystic Fibrosis - pathology Cystic Fibrosis Transmembrane Conductance Regulator - biosynthesis Cystic Fibrosis Transmembrane Conductance Regulator - genetics Diagnosis, Differential Digestive System - pathology Gastroenterology. Liver. Pancreas. Abdomen Genotype Humans Liver. Biliary tract. Portal circulation. Exocrine pancreas Male Medical sciences Mutation Oligospermia - diagnosis Oligospermia - genetics Organ Specificity - genetics Other diseases. Semiology Phenotype Protein Processing, Post-Translational - genetics Respiratory System - pathology Sweat Gland Diseases - diagnosis Sweat Gland Diseases - genetics Thematic Review Series
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