ABCC8 p.Asp673Asn
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PMID: 9568693
[PubMed]
Hansen T et al: "Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene."
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3
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.
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ABCC8 p.Asp673Asn 9568693:3:27
status: NEW4 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]).
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ABCC8 p.Asp673Asn 9568693:4:4
status: NEW85 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.
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ABCC8 p.Asp673Asn 9568693:85:23
status: NEW87 The Asp673Asn variant was found in only one NIDDM patient.
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ABCC8 p.Asp673Asn 9568693:87:4
status: NEW