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Article

Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming.

Biochemical and biophysical research communications - 15 Mar 1991

Nørby S, Lestienne P, Nelson I, Rosenberg T

Abstract excerpt

An assay was designed that allows detection, by PCR alone, of the mutation of base pair no. 11,778 in human mitochondrial DNA, causing Leber's hereditary optic neuropathy. This was obtained by using a 20-mer primer with the mutation-specific base in the 3'-position, plus a deliberately introduced C/C-mismatch at base no. four from the 3'-end. The latter mismatch was necessary, and sufficient, to prevent...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 2018507
DOI: 10.1016/0006-291x(91)91612-g

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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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Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming.PMID 2018507Read ↗

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