Open AccessLeber's Hereditary Optic Neuropathy–Specific Heteroplasmic Mutation m.14495A>G Found in a Chinese Family
Author(s) -
Shouqing Li,
Shan Duan,
Yueyuan Qin,
Sheng Lin,
Kaifeng Zheng,
Xi Li,
Linghua Zhang,
Xueying Gu,
Keqin Yao,
Baojiang Wang
Publication year - 2019
Publication title -
translational vision science and technology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.508
H-Index - 21
ISSN - 2164-2591
DOI - 10.1167/tvst.8.4.3
Subject(s) - heteroplasmy , leber's hereditary optic neuropathy , mitochondrial dna , sanger sequencing , genetics , mutation , haplogroup , biology , optic neuropathy , haplotype , microbiology and biotechnology , genotype , gene , optic nerve , neuroscience
dPCR can be used for the assessment of LHON disease, and a new genetic-based diagnostic strategy has been proposed for LHON patients with the m.14495A>G mutation.
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