PMID: 16416420

Gloyn AL, Siddiqui J, Ellard S
Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Hum Mutat. 2006 Mar;27(3):220-31., [PubMed]
Sentences
No. Mutations Sentence Comment
240 ABCC8 p.Val187Asp
X
ABCC8 p.Val187Asp 16416420:240:53
status: NEW
view ABCC8 p.Val187Asp details
 population two founder mutations have been reported (V187D and E1507 K) [Huopio et al., 2000; Otonkoski et al., 1999]. Login to comment 241 ABCC8 p.Val187Asp
X
ABCC8 p.Val187Asp 16416420:241:4
status: NEW
view ABCC8 p.Val187Asp details
 The V187D mutation is associated with 50% of HI in this population [Otonkoski et al., 1999]. Login to comment