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Article

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

European journal of human genetics : EJHG - 1 Jun 2012

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

Abstract excerpt

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 other families carrying the A1555G mutation, matrilineal relatives among these two Chinese families exhibited both...

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Identifiers

PMID: 22317974
DOI: 10.1038/ejhg.2011.259
PMCID: PMC3355256

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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