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Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy

BACKGROUND: The diagnosis of atypical non-autoimmune forms of diabetes mellitus, such as maturity onset diabetes of the young (MODY) presents several challenges, in view of the extensive clinical and genetic heterogeneity of the disease. In this report we describe a case of atypical non autoimmune d...

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Detalles Bibliográficos
Autores principales: Pace, Nikolai Paul, Craus, Johann, Felice, Alex, Vassallo, Josanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952643/
https://www.ncbi.nlm.nih.gov/pubmed/29764441
http://dx.doi.org/10.1186/s12902-018-0257-z