Divergent phenotypes in siblings with identical novel mutations in the HNF-1α gene leading to maturity onset diabetes of the young type 3

BACKGROUND: Maturity onset diabetes of the young (MODY) is an autosomal dominant form of non–insulin-dependent diabetes mellitus caused by mutations in at least 13 different genes. The hepatocyte nuclear factor (HNF)-1α gene is affected in the most common form (HNF1A-MODY [MODY3]). CASE PRESENTATION...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Knebel, Birgit, Mack, Susanne, Haas, Jutta, Herman-Friede, Mona Kathrin, Lange, Simone, Schubert, Oliver, Kotzka, Jorg, Muller-Wieland, Dirk
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4855429/
https://ncbi.nlm.nih.gov/pubmed/27142837
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0297-z
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