PMID: 15286085

Wright AM, Gong X, Verdon B, Linsdell P, Mehta A, Riordan JR, Argent BE, Gray MA
Novel regulation of cystic fibrosis transmembrane conductance regulator (CFTR) channel gating by external chloride.
J Biol Chem. 2004 Oct 1;279(40):41658-63. Epub 2004 Jul 31., 2004-10-01 [PubMed]
Sentences
No. Mutations Sentence Comment
227 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15286085:227:29
status: NEW
view ABCC7 p.Arg117His details
 The disease-causing mutation R117H is known to reduce the open state probability of CFTR by ϳ30% (37). Login to comment