Article
Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
PloS one - 1 Jan 2012
Capuano Marina, Garcia-Herrero Carmen Maria, Tinto Nadia, Carluccio Carla, Capobianco Valentina, Coto Iolanda, Cola Arturo, Iafusco Dario, Franzese Adriana, Zagari Adriana, Navas Maria Angeles, Sacchetti Lucia
Abstract excerpt
Type 2 Maturity Onset Diabetes of the Young (MODY2) is a monogenic autosomal disease characterized by a primary defect in insulin secretion and hyperglycemia. It results from GCK gene mutations that impair enzyme activity. Between 2006 and 2010, we investigated GCK mutations in 66 diabetic children from southern Italy with suspected MODY2. Denaturing High Performance Liquid Chromatography (DHPLC) and sequence...
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