Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility

Multiple morphological abnormalities of flagella (MMAF) are human reproduction disorders due to the dysplastic development of sperm flagella. The spermatozoa of men with MMAF manifest absent, short, coiled, bent, and/or irregular-caliber flagella. Previous studies revealed genetic contributions to h...

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Veröffentlicht in:	Journal of human genetics 2019-01, Vol.64 (1), p.49-54
Hauptverfasser:	Li, Weiyu, He, Xiaojin, Yang, Shenmin, Liu, Chunyu, Wu, Huan, Liu, Wangjie, Lv, Mingrong, Tang, Dongdong, Tan, Jing, Tang, Shuyan, Chen, Yujie, Wang, Jiajia, Zhang, Zhiguo, Wang, Hongyan, Jin, Li, Zhang, Feng, Cao, Yunxia
Format:	Artikel
Sprache:	eng
Schlagworte:	Calcium-Binding Proteins - genetics Cilia Female Flagella Gene expression Genetic analysis Genomes Homozygote Humans Immunofluorescence Infertility Infertility, Male - genetics Infertility, Male - pathology Male Mutation Pedigree Prognosis Sperm Sperm Tail - metabolism Sperm Tail - pathology Whole Exome Sequencing
Online-Zugang:	Volltext
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