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[Penetrance of Leber hereditary optic neuropathy individuals with mitochondrial DNA 11778 mutation in the Shanxi area].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2004

Zheng Mei-ling, Zhang Gui-lin, Hua Ai-ling, Zhang Yue-lian

Abstract excerpt

OBJECTIVE: To analyze the penetrance of Leber hereditary optic neuropathy (LHON) individuals with mitochondrial DNA 11778 mutation in Shanxi. METHODS: Allele-specific PCR was used to detect mtDNA 11778 mutation in LHON patients and their families. RESULTS: In 17 families of the 30 families that harbored mtDNA 11778 mutation, only the probands were LHON patients. In the other 13 families, besides the probands, 72...

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PMID: 15079802

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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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