ABCMdb

PMID: 9568693

Hansen T, Echwald SM, Hansen L, Moller AM, Almind K, Clausen JO, Urhammer SA, Inoue H, Ferrer J, Bryan J, Aguilar-Bryan L, Permutt MA, Pedersen O
Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene.
Diabetes. 1998 Apr;47(4):598-605., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCC8 p.Asp673Asn The two missense variants (Asp673Asn and Ser1369Ala) and two sequence variants (ACC→ACT, Thr759Thr and a c→t intron variant in position -3 of the exon 16 splice acceptor site) were examined for association with NIDDM and for a possible influence on insulin and C-peptide secretion after intravenous glucose and tolbutamide loads in a random sample of unrelated, healthy, young Danish Caucasians. Login to comment 4 ABCC8 p.Asp673Asn The Asp673Asn variant in exon 14 was only identified in one NIDDM patient, and the allelic frequency of the Ser1369Ala was similar among 247 control subjects (0.38 [95% CI 0.34-0.42]) and 406 NIDDM patients (0.40 [0.37-0.43]). Login to comment 85 ABCC8 p.Asp673Asn Two missense variants, Asp673Asn and Ser1369Ala, and two silent variants that previously have been shown to be associated with NIDDM were all examined for association with NIDDM and for a possible influence on glucoseand tolbutamide-induced C-peptide and insulin secretion in a cohort of 380 young white Danes. Login to comment 87 ABCC8 p.Asp673Asn The Asp673Asn variant was found in only one NIDDM patient. Login to comment