Article
De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.
Diabetologia - 1 Mar 2014
Stanik Juraj, Dusatkova Petra, Cinek Ondrej, Valentinova Lucia, Huckova Miroslava, Skopkova Martina, Dusatkova Lenka, Stanikova Daniela, Pura Mikulas, Klimes Iwar, Lebl Jan, Gasperikova Daniela, Pruhova Stepanka
Abstract excerpt
AIMS/HYPOTHESIS: MODY is mainly characterised by an early onset of diabetes and a positive family history of diabetes with an autosomal dominant mode of inheritance. However, de novo mutations have been reported anecdotally. The aim of this study was to systematically revisit a large collection of MODY patients to determine the minimum prevalence of de novo mutations in the most prevalent MODY genes (i.e. GCK,...
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