Mutations in CFTR associated with mild-disease-form CI - channels with altered pore properties

THE cystic fibrosis transmembrane conductance regulator (CFTR) is a phosphorylation-regulated Cl - channel located in the apical membrane of epithelia 1–10 . Although cystic fibrosis (CF) is caused by mutations in a single gene encoding CFTR 11,12 , the disease has a variable clinical phenotype 13,1...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Nature (London) 1993-03, Vol.362 (6416), p.160-164
Hauptverfasser:	Sheppard, David N, Rich, Devra P, Ostedgaard, Lynda S, Gregory, Richard J, Smith, Alan E, Welsh, Michael J
Format:	Artikel
Sprache:	eng
Schlagworte:	Cystic fibrosis Humanities and Social Sciences letter multidisciplinary Mutation Science Science (multidisciplinary)
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!