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The transmission of human mitochondrial DNA in four-generation pedigrees

Liu, Q; Iqbal, MF; Yaqub, T; Firyal, S; Zhao, YQ; Stoneking, M; Li, MK

Zhao, YQ (通讯作者),China Agr Univ, Coll Biol Sci, State Key Lab Agrobiotechnol, Beijing 100193, Peoples R China.;Li, MK (通讯作者),Chinese Acad Sci, Beijing Inst Genom, Key Lab Genom & Precis Med, 1-104 Beichen West Rd, Beijing 100101, Peoples R China.;Li, MK (通讯作者),China Natl Ctr Bioinformat, 1-104 Beichen West Rd, Beijing 100101, Peoples R China.;Stoneking, M (通讯作者),Max Planck Inst Evolutionary Anthropol, Dept Evolutionary Genet, Deutsch Pl 6, D-04103 Leipzig, Germany.

HUMAN MUTATION, 2022; 43 (9): 1259

Abstract

Most of the pathogenic variants in mitochondrial DNA (mtDNA) exist in a heteroplasmic state (coexistence of mutant and wild-type mtDNA). Understanding......

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