GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation

Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes inherited as an autosomal dominant trait. The second most common cause is GCK-MODY due to heterozygous mutations in the GCK gene which impair the glucokinase function through different mechanisms such as enzymatic activity,...

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Detalles Bibliográficos
Autores principales: Bonfig, Walter, Hermanns, Sandra, Warncke, Katharina, Eder, Gabriele, Engelsberger, Ilse, Burdach, Stefan, Ziegler, Annette Gabriele, Lohse, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scholarly Research Network 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3263572/
https://www.ncbi.nlm.nih.gov/pubmed/22389783
http://dx.doi.org/10.5402/2011/676549

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3263572/
https://www.ncbi.nlm.nih.gov/pubmed/22389783
http://dx.doi.org/10.5402/2011/676549

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