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Article

Deep sequencing shows that accumulation of potentially pathogenic mtDNA mutations rather than mtDNA copy numbers may be associated with early embryonic loss.

Journal of assisted reproduction and genetics - 1 Sept 2020

Ji Licheng, Liao Tingting, Yang Juan, Su Houming, Song Jianyuan, Qian Kun

Abstract excerpt

PURPOSE: To explore the relationship between mitochondrial DNA quantity and heteroplasmy and early embryonic loss. METHODS: A total of 150 villous samples from patients with spontaneous abortion (SA, n = 75) or induced abortion (IA, n = 75) were collected. qPCR and next-generation sequencing (NGS) were used to test mitochondrial DNA quantity and heteroplasmy. Missense mutations with a CADD score > 15 and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32700162
DOI: 10.1007/s10815-020-01893-5
PMCID: PMC7492355

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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