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Article

A novel homozygous mutation in DNAJB13-a gene associated with the sperm axoneme-leads to teratozoospermia.

Journal of assisted reproduction and genetics - 1 Mar 2022

Liu Mohan, Li Jinhui, Jiang Chuan, Zhou Yanning, Sun Yongkang, Yang Yihong, Shen Ying

Abstract excerpt

PURPOSE: To evaluate the unknown genetic causes of teratozoospermia, and determine the pathogenicity of candidate variants. METHODS: A primary infertile patient and his family members were recruited in the West China Second University Hospital of Sichuan University. Whole-exome sequencing was performed to identify causative genes in a man with teratozoospermia. Immunofluorescence staining and western blotting...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35166991
DOI: 10.1007/s10815-022-02431-1
PMCID: PMC8995218

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