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Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility

2 May 2019

Abstract excerpt

Background Male infertility due to multiple morphological abnormalities of the sperm flagella (MMAF) is a genetically heterogeneous disorder. Previous studies revealed several MMAF-associated genes, which account for approximately 60% of human MMAF cases. The pathogenic mechanisms of MMAF remain to be illuminated. Methods and results We conducted genetic analyses using whole-exome sequencing in 50 Han Chinese...

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PMID: 31048344
DOI: 10.1136/jmedgenet-2019-106011

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