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Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes

OBJECTIVE: Heterozygous loss-of-function mutations in HNF1A cause maturity-onset diabetes of the young (MODY). Affected individuals can be treated with low-dose sulfonylureas. Individuals with homozygous HNF1A mutations causing MODY have not been reported. RESEARCH DESIGN AND METHODS: We phenotyped...

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Detalles Bibliográficos
Autores principales: Misra, Shivani, Hassanali, Neelam, Bennett, Amanda J., Juszczak, Agata, Caswell, Richard, Colclough, Kevin, Valabhji, Jonathan, Ellard, Sian, Oliver, Nicholas S., Gloyn, Anna L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Diabetes Association 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7102871/
https://www.ncbi.nlm.nih.gov/pubmed/32001615
http://dx.doi.org/10.2337/dc19-1843