Article
beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations.
Diabetes - 1 Feb 2001
Pearson E R, Velho G, Clark P, Stride A, Shepherd M, Frayling T M, Bulman M P, Ellard S, Froguel P, Hattersley A T
Abstract excerpt
Mutations in the beta-cell genes encoding the glycolytic enzyme glucokinase (GCK) and the transcription factor hepatocyte nuclear factor (HNF)-1alpha are the most common causes of maturity-onset diabetes of the young (MODY). Studying patients with mutations in these genes gives insights into the functions of these two critical beta-cell genes in humans. We studied 178 U.K. and French MODY family members,...
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