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Article

Novel mitochondrial gene variants in Northwestern Chinese probands with non-syndromic hearing loss by whole mitochondrial genome screening.

Gene - 30 Apr 2018

Chen Xiaowan, Wang Fang, Maerhaba Aishanjiang, Li Qianqian, Wang Jianchao, Liu Xiaowen, Zheng Jing, Chen Ye, Guo YuFen

Abstract excerpt

Mitochondrial DNA mutations play an important role in hereditary hearing loss. The present study aimed at identifying more novel genetic variants of mitochondrial DNA. Complete Mitochondrial genomes were detected in 97 Northwestern Chinese probands with non-syndromic hearing loss and 376 control subjects. The variants were evaluated for the pathogenicity using the following criteria: (1) present in <1% of the...

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Share to DNA, Mitochondrial
Share to Genes, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Mitochondrial

Share to Hearing Loss, Bilateral

Share to High-Throughput Nucleotide Sequencing

Share to RNA, Ribosomal

Share to RNA, Ribosomal, 16S

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Source

Identifiers

PMID: 29408584
DOI: 10.1016/j.gene.2018.01.098

Provenance

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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