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Article

What is a 'novel' mtDNA mutation--and does 'novelty' really matter?

Journal of human genetics - 1 Jan 2006

Bandelt Hans-Jürgen, Salas Antonio, Bravi Claudio M

Abstract excerpt

The hunt for pathogenic mitochondrial DNA (mtDNA) mutations is often fueled by the seeming novelty of mutations that are either nonsynonymous or affect the protein synthesis machinery in patients. In order to determine the novelty of a detected mutation, the working geneticist nearly always consu...

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Identifiers

PMID: 17021933
DOI: 10.1007/s10038-006-0066-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17021933-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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