Article
Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro.
Diabetic medicine : a journal of the British Diabetic Association - 1 Jun 2010
Wirsing A, Johnstone K A, Harries L W, Ellard S, Ryffel G U, Stanik J, Gasperikova D, Klimes I, Murphy R
Abstract excerpt
AIMS: Mutations in HNF4A cause a form of monogenic beta-cell diabetes. We aimed to identify mutations in the pancreas-specific P2 promoter of HNF4A in families with suspected HNF4A diabetes and to show that they impaired the function of the promoter in vitro. METHODS: We screened families with a clinical suspicion of HNF4A monogenic beta-cell diabetes for mutations in the HNF4A P2 promoter. We investigated the...
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