PMID: 11697420

Christesen HB, Feilberg-Jorgensen N, Jacobsen BB
Pancreatic beta-cell stimulation tests in transient and persistent congenital hyperinsulinism.
Acta Paediatr. 2001 Oct;90(10):1116-20., [PubMed]
Sentences
No. Mutations Sentence Comment
12 ABCC8 p.Asn188Ser
X
ABCC8 p.Asn188Ser 11697420:12:64
status: NEW
view ABCC8 p.Asn188Ser details
 Compound heterozygosity for the SUR1 mutations 3992-3c to g and N188S was found. Login to comment 111 ABCC8 p.Asn188Ser
X
ABCC8 p.Asn188Ser 11697420:111:38
status: NEW
view ABCC8 p.Asn188Ser details
 The maternal exon 5 missense mutation N188S has also been found in a homozygous proband with severe HI (12). Login to comment