PMID: 21674179

Kapoor RR, Flanagan SE, James CT, McKiernan J, Thomas AM, Harmer SC, Shield JP, Tinker A, Ellard S, Hussain K
Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.
Diabetologia. 2011 Oct;54(10):2575-83. Epub 2011 Jun 15., [PubMed]
Sentences
No. Mutations Sentence Comment
131 ABCC8 p.Glu1506Lys
X
ABCC8 p.Glu1506Lys 21674179:131:55
status: NEW
view ABCC8 p.Glu1506Lys details
 first reported a dominant inactivating ABCC8 mutation, E1506K (E1507K according to reference sequence NM_000352.2), that caused HH progression to hypoinsulinaemic DM during middle age [9, 14]. Login to comment