A novel homozygous splice variant in DNAAF4 is associated with asthenozoospermia  

作　　者：Xiaobin Zhu Chen Chen Jian Song Shijue Dong Xuhui Zeng Zhihong Niu Yanwei Sha Xiaoning Zhang 

机构地区：[1]Department of Gynecology and Obstetrics,Reproductive Medical Center,Shanghai Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China [2]Institute of Reproductive Medicine,School of Medicine,Nantong University,Nantong 226019,China [3]Department of Andrology,Women and Children’s Hospital,School of Medicine,Xiamen University,Xiamen 361005,China

出　　处：《Acta Biochimica et Biophysica Sinica》2023年第10期1689-1692,共4页生物化学与生物物理学报（英文版）

基　　金：supported by the grants from the Nantong Social and People’s Livelihood Science and Technology Plan(No.MS22022087 to X.Z.);the Basic Science Research Program of Nantong(No.JC22022086 to X.Z.).

摘　　要：Primary ciliary dyskinesia(PCD)is an autosomal recessive disorder with a high degree of genetic and phenotypic heterogeneity resulted from defects in the structural characteristics and motility of flagella and cilia[1].To data,over 50 mutations have been identified as harboring PCD-related mutations,and approximately half of the affected patients suffer from infertility as a result of sperm morphological or functional abnormalities[2].

关 键 词：PRIMARY MOTILITY HARBOR 

分 类 号：R746[医药卫生—神经病学与精神病学]