PMID: 18339976

Gussinyer M, Clemente M, Cebrian R, Yeste D, Albisu M, Carrascosa A
Glucose intolerance and diabetes are observed in the long-term follow-up of nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene.
Diabetes Care. 2008 Jun;31(6):1257-9. Epub 2008 Mar 13., [PubMed]
Sentences
No. Mutations Sentence Comment
14 ABCC8 p.Leu1148Arg
X
ABCC8 p.Leu1148Arg 18339976:14:307
status: NEW
view ABCC8 p.Leu1148Arg details
 ABCC8 gene study (39 exons and intron-exon boundaries) showed the following: patient 1, 2800CϾT (R934X; exon 23) and 3992-9GϾA (intron 32), parents not evaluated; patient 2, 3576delG (L1191LfsX1207; exon 29, paternal) and 3751CϾT (R1251X; exon 30, maternal); and patient 3, 3443TϾG (L1148R; exon 28, maternal) and 3751CϾT (R1251X; exon 30, paternal) (4). Login to comment