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Article

Whole exome sequencing in recurrent early pregnancy loss.

Molecular human reproduction - 1 May 2016

Qiao Ying, Wen Jiadi, Tang Flamingo, Martell Sally, Shomer Naomi, Leung Peter C K, Stephenson Mary D, Rajcan-Separovic Evica

Abstract excerpt

STUDY HYPOTHESIS: Exome sequencing can identify genetic causes of idiopathic recurrent pregnancy loss (RPL). STUDY FINDING: We identified compound heterozygous deleterious mutations affecting DYNC2H1 and ALOX15 in two out of four families with RPL. Both genes have a role in early development. Bioinformatics analysis of all genes with rare and putatively pathogenic mutations in miscarriages and couples showed...

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Source

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Identifiers

PMID: 26826164
DOI: 10.1093/molehr/gaw008
PMCID: PMC4847612

Genes

ALOX15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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