Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.

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 patho...

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Main Authors: Lucia Valentínová, Nicola L Beer, Juraj Staník, Nicholas D Tribble, Martijn van de Bunt, Miroslava Hučková, Amy Barrett, Iwar Klimeš, Daniela Gašperíková, Anna L Gloyn
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0034541&type=printable
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https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0034541&type=printable

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