PMID: 22815030

Ooi HL, Wu LL
Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome.
Singapore Med J. 2012 Jul;53(7):e142-4., [PubMed]
Sentences
No. Mutations Sentence Comment
44 ABCC8 p.Gln211Lys
X
ABCC8 p.Gln211Lys 22815030:44:182
status: NEW
view ABCC8 p.Gln211Lys details
ABCC8 p.Gln211Lys
X
ABCC8 p.Gln211Lys 22815030:44:250
status: NEW
view ABCC8 p.Gln211Lys details
 Investigations showed negative pancreatic autoantibodies, and a normal pancreas was identified on ultrasonography. Genetic studies revealed heterozygous activating missense mutation Q211K in the exon 5 of the ABCC8 gene, resulting in substitution of lysine for glutamine at codon 211. Login to comment