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Article

Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCR.

Clinica chimica acta; international journal of clinical chemistry - 11 Nov 2010

Bi Rui, Zhang A-Mei, Yu Dandan, Chen Diana, Yao Yong-Gang

Abstract excerpt

BACKGROUND: Leber hereditary optic neuropathy (LHON) is one of the most common mitochondrial diseases, which is mainly caused by three mitochondrial DNA (mtDNA) mutations (m.3460G>A, m.11778G>A and m.14484T>C). Incomplete penetrance suggests that there might be asymptomatic carriers in general populations. These asymptomatic carriers are clinically important as they are potential future patients and the female...

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Source

Identifiers

PMID: 20599858
DOI: 10.1016/j.cca.2010.06.026

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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