Article
A new de novo mutation in the GCK gene causing MODY2.
Diabetes research and clinical practice - 1 Jul 2011
Cappelli Alessia, Silvestri Serena, Tumini Stefano, Carinci Silvia, Cipriano Paola, Massi Luciano, Staffolani Paolo, Pianese Luigi
Abstract excerpt
Analysis of glucokinase (GCK) gene in a 15-year-old male identified a new frameshift mutation in exon 4 caused by a heterozygous guanine deletion at position 382 (c.382delG, p.E128Xfs). No mutation was detected in the parents. Polymorphic markers' study excluded false paternity indicating that c.382delG is a novel de novo mutation.
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