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Identification and functional analysis of c.422_423InsT, a novel mutation of the HNF1A gene in a patient with diabetes

BACKGROUND: HNF1A gene regulates liver‐specific genes, and genes that have a role in glucose metabolism, transport, and secretion of insulin. HNF1A gene mutations are frequently associated with type 2 diabetes. HNF1A protein has three domains: the dimerization domain, the DNA‐binding domain, and the...

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Detalles Bibliográficos
Autores principales: Magaña‐Cerino, Jesús Miguel, Luna‐Arias, Juan P., Labra‐Barrios, María Luisa, Avendaño‐Borromeo, Bartolo, Boldo‐León, Xavier Miguel, Martínez‐López, Mirian Carolina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241209/
https://www.ncbi.nlm.nih.gov/pubmed/28116330
http://dx.doi.org/10.1002/mgg3.261