PMID: 11226335

Cartier EA, Conti LR, Vandenberg CA, Shyng SL
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.
Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2882-7., [PubMed]
Sentences
No. Mutations Sentence Comment
196 ABCC8 p.Arg1420Cys
X
ABCC8 p.Arg1420Cys 11226335:196:134
status: NEW
view ABCC8 p.Arg1420Cys details
 This mechanism has been shown to be responsible for the reduced channel sensitivity to MgADP in another PHHI-associated SUR1 mutation R1420C, also located in NBF2 (17). Login to comment