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De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome

BACKGROUND: The syndrome of maternally inherited diabetes and deafness (MIDD) is typically caused by the m.3243A>G mutation and widely considered maternally inherited. In our study, we aimed to investigate the heredity way of the m.3243A>G among pedigrees with MIDD and discover novel mitochond...

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Detalles Bibliográficos
Autores principales: Jiang, Zhixin, Zhang, Yinan, Yan, Jingbin, Li, Fengwen, Geng, Xinqian, Lu, Huijuan, Wei, Xiaoer, Feng, Yanmei, Wang, Congrong, Jia, Weiping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476128/
https://www.ncbi.nlm.nih.gov/pubmed/31143779
http://dx.doi.org/10.1155/2019/5184647