The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees

We reported here clinical, genetic evaluations and molecular analysis of mitochondrial DNA (mtDNA) in two Han Chinese families carrying the known mitochondrial 12S rRNA A1555G mutation. In contrast with the previous data that hearing loss as a sole phenotype was present in the maternal lineage of ot...

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Detalhes bibliográficos
Main Authors: Chen, Hong, Zheng, Jing, Xue, Ling, Meng, Yanzi, Wang, Yan, Zheng, Bingjiao, Fang, Fang, Shi, Suxue, Qiu, Qiaomeng, Jiang, Pingping, Lu, Zhongqiu, Mo, Jun Qin, Lu, Jianxin, Guan, Min-Xin
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3355256/
https://ncbi.nlm.nih.gov/pubmed/22317974
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.259
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