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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...
Autores principales: | Jiang, Zhixin, Zhang, Yinan, Yan, Jingbin, Li, Fengwen, Geng, Xinqian, Lu, Huijuan, Wei, Xiaoer, Feng, Yanmei, Wang, Congrong, Jia, Weiping |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2019
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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 |
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