Article
Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
PloS one - 1 Jan 2012
Valentínová Lucia, Beer Nicola L, Staník Juraj, Tribble Nicholas D, van de Bunt Martijn, Hučková Miroslava, Barrett Amy, Klimeš Iwar, Gašperíková Daniela, Gloyn Anna L
Abstract excerpt
Heterozygous glucokinase (GCK) mutations cause a subtype of maturity-onset diabetes of the young (GCK-MODY). Over 600 GCK mutations have been reported of which ∼65% are missense. In many cases co-segregation has not been established and despite the importance of functional studies in ascribing pathogenicity for missense variants these have only been performed for <10% of mutations. The aim of this study was to...
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