PMID: 26568660

Takeda R, Takagi M, Miyai K, Shinohara H, Yagi H, Moritani M, Yokota I, Hasegawa Y
A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide.
Clin Pediatr Endocrinol. 2015 Oct;24(4):191-3. doi: 10.1297/cpe.24.191. Epub 2015 Oct 24., [PubMed]
Sentences
No. Mutations Sentence Comment
16 ABCC8 p.Val587Gly
X
ABCC8 p.Val587Gly 26568660:16:67
status: NEW
view ABCC8 p.Val587Gly details
 Sequencing analysis revealed a novelheterozygousmissensemutation(p.V587G) in exon 12 of the patient`s ABCC8 gene, but this mutation was not detected in his parents. Login to comment