Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation

BACKGROUND: Mitochondrial cytopathies are characterized by a large variability of clinical phenotypes and severity. The amount of mutant mitochondrial DNA (mtDNA) in a cell, called the heteroplasmy level, is an important determinant of the degree of mitochondrial dysfunction and therefore disease se...

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Main Authors: Zhu, Yuhua, Huang, Shasha, Kang, Dongyang, Han, Mingyu, Wang, Guojian, Yuan, Yongyi, Su, Yu, Yuan, Huijun, Zhai, Suoqiang, Dai, Pu
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3933286/
https://ncbi.nlm.nih.gov/pubmed/24533451
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2156-15-26
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