PMID: 20573158

Flanagan SE, Kapoor RR, Banerjee I, Hall C, Smith VV, Hussain K, Ellard S
Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.
Clin Genet. 2011 Jun;79(6):582-7. doi: 10.1111/j.1399-0004.2010.01476.x., [PubMed]
Sentences
No. Mutations Sentence Comment
30 ABCC8 p.Glu1506Lys
X
ABCC8 p.Glu1506Lys 20573158:30:109
status: NEW
view ABCC8 p.Glu1506Lys details
 Huopio et al. described the first dominantly inherited ABCC8 mutation, E1507K (described by Huopio et al. as E1506K based on isoform L78207 that excludes the alternatively spliced amino acid in exon 17), that caused HH in early life and predisposes to later insulin deficiency. Login to comment