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Article

Mitochondrial DNA analysis: polymorphisms and pathogenicity.

Journal of medical genetics - 1 Jul 1999

Chinnery P F, Howell N, Andrews R M, Turnbull D M

Abstract excerpt

The investigation of mtDNA disease can be relatively straightforward if a person has a recognisable phenotype and if it is possible to identify a known pathogenic mtDNA mutation. The difficulties arise when no known mtDNA defect can be found, or when the clinical abnormalities are complex and not...

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PMID: 10424809
PMCID: PMC1734403

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10424809-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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