Identification and precision therapy for three maturity-onset diabetes of the young (MODY) families caused by mutations in the HNF4A gene

BACKGROUND: Heterozygous pathogenic variants in HNF4A gene cause maturity-onset diabetes of the young type 1 (MODY1). The mutation carriers for MODY1 have been reported to be relatively rare, in contrast to the most frequently reported forms of MODY2 and MODY3. METHODS: Whole exome sequencing (WES)...

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Detalles Bibliográficos
Autores principales: Zhang, Juan, Jiang, Yanyan, Li, Jianhua, Zou, Haiyin, Yin, Li, Yang, Yang, Yang, Lei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10498112/
https://www.ncbi.nlm.nih.gov/pubmed/37711893
http://dx.doi.org/10.3389/fendo.2023.1237553

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