PMID: 11867634

Taschenberger G, Mougey A, Shen S, Lester LB, LaFranchi S, Shyng SL
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels.
J Biol Chem. 2002 May 10;277(19):17139-46. Epub 2002 Feb 26., [PubMed]
Sentences
No. Mutations Sentence Comment
221 ABCC8 p.Phe591Leu
X
ABCC8 p.Phe591Leu 11867634:221:18
status: NEW
view ABCC8 p.Phe591Leu details
 Another mutation, F591L, which is also outside of the two NBFs, has similar detrimental effects on channel response to MgADP and diazoxide (20). Login to comment 222 ABCC8 p.Phe591Leu
X
ABCC8 p.Phe591Leu 11867634:222:18
status: NEW
view ABCC8 p.Phe591Leu details
 Another mutation, F591L, which is also outside of the two NBFs, has similar detrimental effects on channel response to MgADP and diazoxide (20). Login to comment