Article
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.
Diabetologia - 1 Nov 2007
Ellard S, Thomas K, Edghill E L, Owens M, Ambye L, Cropper J, Little J, Strachan M, Stride A, Ersoy B, Eiberg H, Pedersen O, Shepherd M H, Hansen T, Harries L W, Hattersley A T
Abstract excerpt
AIMS/HYPOTHESIS: Heterozygous mutations of glucokinase (GCK) and hepatocyte nuclear factor-1 alpha (HNF1A; also known as hepatic transcription factor 1 [TCF1]) genes are the most common cause of MODY. Genomic deletions of the HNF1B (also known as TCF2) gene have recently been shown to account for...
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