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Article

Minisequencing mitochondrial DNA pathogenic mutations.

BMC medical genetics - 10 Apr 2008

Alvarez-Iglesias Vanesa, Barros Francisco, Carracedo Angel, Salas Antonio

Abstract excerpt

BACKGROUND: There are a number of well-known mutations responsible of common mitochondrial DNA (mtDNA) diseases. In order to overcome technical problems related to the analysis of complete mtDNA genomes, a variety of different techniques have been proposed that allow the screening of coding region pathogenic mutations. METHODS: We here propose a minisequencing assay for the analysis of mtDNA mutations. In a...

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Identifiers

PMID: 18402672
DOI: 10.1186/1471-2350-9-26
PMCID: PMC2377236

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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