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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,...
Autores principales: | Bonfig, Walter, Hermanns, Sandra, Warncke, Katharina, Eder, Gabriele, Engelsberger, Ilse, Burdach, Stefan, Ziegler, Annette Gabriele, Lohse, Peter |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scholarly Research Network
2011
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Materias: | |
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 |
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