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Article

Molecular analysis of oxidative phosphorylation diseases for detection of mitochondrial DNA mutations.

Current protocols in human genetics - 1 May 2001

Shoffner J M

Abstract excerpt

Oxidative phosphorylation (OXPHOS) diseases are caused by inherited or spontaneously occurring mutations in the mitochondrial DNA (mtDNA) or the nuclear DNA. Mutations in the mtDNA can be classified into two groups, rearrangements and point mutations. This unit describes a method for detecting rearrangements of the mtDNA, which involves Southern blot hybridization. Another protocol detects mtDNA point mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 18428320
DOI: 10.1002/0471142905.hg0909s13

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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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