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Article

Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing.

American journal of human genetics - 1 Feb 1996

Ghosh S S, Fahy E, Bodis-Wollner I, Sherman J, Howell N

Abstract excerpt

Nucleotide-sequencing and multiplexed primer-extension assays have been used to quantitate the mutant-allele frequency in 14 maternal relatives, spanning three generations, from a family that is heteroplasmic for the primary Leber hereditary optic neuropathy (LHON) mutation at nucleotide 3460 of...

Topics

Alleles
Base Sequence
DNA Primers
DNA, Mitochondrial
Electrophoresis, Polyacrylamide Gel
Female
Gene Frequency
Humans
Longitudinal Studies
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Optic Atrophies, Hereditary

Pedigree

Regression Analysis

Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 8571959
PMCID: PMC1914528

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8571959-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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