Article
Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes.
The Journal of clinical investigation - 1 Nov 1999
Macfarlane W M, Frayling T M, Ellard S, Evans J C, Allen L I, Bulman M P, Ayres S, Shepherd M, Clark P, Millward A, Demaine A, Wilkin T, Docherty K, Hattersley A T
Abstract excerpt
The transcription factor insulin promoter factor-1 (IPF-1) plays a central role in both the development of the pancreas and the regulation of insulin gene expression in the mature pancreatic beta cell. A dominant-negative frameshift mutation in the IPF-l gene was identified in a single family and shown to cause pancreatic agenesis when homozygous and maturity-onset diabetes of the young (MODY) when heterozygous....
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