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Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening

Mutations in mitochondrial DNA (mtDNA) are reported to be responsible for the pathogenesis of maternally inherited hearing loss. Complete mtDNA sequencing may detect pathogenic mutations, but whether they are indeed pathogenic can be difficult to interpret because of normal ethnic-associated haplogr...

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Autori principali: Yano, Takuya, Nishio, Shin-ya, Usami, Shin-ichi
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3970901/
https://ncbi.nlm.nih.gov/pubmed/24401907
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2013.128
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