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The rate and nature of mitochondrial DNA mutations in human pedigrees.

Cell - 25 Jul 2024

Árnadóttir Erla R, Moore Kristján H S, Guðmundsdóttir Valdís B, Ebenesersdóttir S Sunna, Guity Kamran, Jónsson Hákon, Stefánsson Kári, Helgason Agnar

Abstract excerpt

We examined the rate and nature of mitochondrial DNA (mtDNA) mutations in humans using sequence data from 64,806 contemporary Icelanders from 2,548 matrilines. Based on 116,663 mother-child transmissions, 8,199 mutations were detected, providing robust rate estimates by nucleotide type, functional impact, position, and different alleles at the same position. We thoroughly document the true extent of...

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PMID: 38851187
DOI: 10.1016/j.cell.2024.05.022

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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