A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome
Mengmeng Lu, Shuai Kong, Mingfei Xiang, Yu Wang, Jingjing Zhang, Zongliu Duan, Xiaomin Zha, Fengsong Wang, Yunxia Cao, Fuxi Zhu
Topics & Concepts
Missense mutationSanger sequencingBiologyMutationMutantGeneticsHuman geneticsGenetic counselingImmunofluorescenceGeneMutant proteinBlotMolecular biologyAndrologyMedicineAntibodyGenomics and Rare DiseasesGenetic Associations and EpidemiologyBlood disorders and treatments