A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome

PURPOSE: To identify the pathogenic mutation in PMFBP1 leading to acephalic spermatozoa syndrome. METHODS: Sanger sequencing was used to screen for mutations in the known pathogenic genes SUN5 and PMFBP1 in a patient with acephalic spermatozoa syndrome. Western blotting and immunofluorescence were u...

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Vydáno v:J Assist Reprod Genet
Hlavní autoři: Lu, Mengmeng, Kong, Shuai, Xiang, Mingfei, Wang, Yu, Zhang, Jingjing, Duan, Zongliu, Zha, Xiaomin, Wang, Fengsong, Cao, Yunxia, Zhu, Fuxi
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer US 2021
Témata:
Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8079480/
https://ncbi.nlm.nih.gov/pubmed/33484382
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10815-021-02075-7
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