Case Report: Identification of a rare nonsense mutation in the POC1A gene by NGS in a diabetes mellitus patient

Objective: This study aimed to investigate the clinical and molecular biology of a patient with a type of diabetes mellitus caused by a mutation in the POC1A (OMIM number: 614783) gene and explore its pathogenesis and related characteristics. Methods: The patient was interviewed about his medical hi...

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Detalles Bibliográficos
Autores principales: Li, Dongfeng, Li, Shihui, Zhou, Jingjing, Zheng, Lili, Liu, Gui, Ding, Chengzhang, Yuan, Xingyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10086226/
https://www.ncbi.nlm.nih.gov/pubmed/37056285
http://dx.doi.org/10.3389/fgene.2023.1113314

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10086226/
https://www.ncbi.nlm.nih.gov/pubmed/37056285
http://dx.doi.org/10.3389/fgene.2023.1113314

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