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Article

Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases.

Molecular human reproduction - 1 Oct 2003

Dean Nicola L, Battersby Brendan J, Ao Asangla, Gosden Roger G, Tan Seang Lin, Shoubridge Eric A, Molnar Maria Judit

Abstract excerpt

To perform preimplantation genetic diagnosis for women carrying heteroplasmic mitochondrial DNA (mtDNA) mutations, it is necessary to ensure that the proportion of mutant mtDNA diagnosed in the biopsied cell gives an accurate indication of the mutant load in the remaining embryo. A heteroplasmic...

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Identifiers

PMID: 12970401
DOI: 10.1093/molehr/gag077

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12970401-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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