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Article

Exclusive homoplasmic 11778 mutation in mitochondrial DNA of Chinese patients with Leber's hereditary optic neuropathy.

Japanese journal of ophthalmology - 1 Jan 2000

Yen M Y, Lee H C, Wang A G, Chang W L, Liu J H, Wei Y H

Abstract excerpt

PURPOSE: To investigate the degree of heteroplasmy of the 11778 mtDNA mutation in Chinese patients with Leber's hereditary optic neuropathy (LHON). METHODS: Seventeen Chinese Leber's pedigrees, including 24 patients, 17 unaffected maternal lineages, 4 internal controls, and 6 unrelated controls, were screened for the 11778 mtDNA mutation. This was carried out by analysis of the restriction fragment length...

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Source

Identifiers

PMID: 10413253
DOI: 10.1016/s0021-5155(99)00008-8

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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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