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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3321013/
https://www.ncbi.nlm.nih.gov/pubmed/22493702
http://dx.doi.org/10.1371/journal.pone.0034541

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3321013/
https://www.ncbi.nlm.nih.gov/pubmed/22493702
http://dx.doi.org/10.1371/journal.pone.0034541

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