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Article

Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation.

Biochemical and biophysical research communications - 14 Aug 2009

Yang Juhua, Zhu Yihua, Tong Yi, Chen Lu, Liu Lijuan, Zhang Zhiqiang, Wang Xiaoyan, Huang Dinggou, Qiu Wentong, Zhuang Shuliu, Ma Xu

Abstract excerpt

We report the clinical and genetic characterization of two Chinese LHON families who do not carry the primary LHON-mutations. Mitochondrial genome sequence analysis revealed the presence of a homoplasmic ND1 G3635A mutation in both families. In Family LHON-001, 31 other variants belonging to the East Asian haplogroup R11a were identified and in Family LHON-019, 37 other variants belonging to the East Asian...

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Identifiers

PMID: 19497304
DOI: 10.1016/j.bbrc.2009.05.127

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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