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Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis.
Hou, Jian-Wen; Li, Xiao-Liang; Wang, Li; Dai, Cong-Ling; Li, Na; Jiang, Xiao-Hui; Tan, Yue-Qiu; Tian, Er-Po; Li, Qin-Tong; Xu, Wen-Ming.
Afiliación
  • Hou JW; Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, China.
  • Li XL; Reproductive Medical Center, Chengdu Xi'nan Gynecology Hospital, Chengdu 610041, China.
  • Wang L; Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, China.
  • Dai CL; Reproductive Medical Center of West China Second University Hospital, Sichuan University, Chengdu 610041, China.
  • Li N; Reproductive Medical Center, Gansu Provincial Maternal and Child-Care Hospital, Lanzhou 730050, China.
  • Jiang XH; Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha 410000, China.
  • Tan YQ; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha 410000, China.
  • Tian EP; Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.
  • Li QT; Human Sperm Bank, West China Second University Hospital, Sichuan University, Chengdu 610041, China.
  • Xu WM; Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha 410000, China.
Asian J Androl ; 25(1): 58-65, 2023.
Article en En | MEDLINE | ID: mdl-35665694
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación Missense / Infertilidad Masculina Tipo de estudio: Risk_factors_studies Límite: Animals / Humans / Male Idioma: En Revista: Asian J Androl Asunto de la revista: MEDICINA REPRODUTIVA / UROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación Missense / Infertilidad Masculina Tipo de estudio: Risk_factors_studies Límite: Animals / Humans / Male Idioma: En Revista: Asian J Androl Asunto de la revista: MEDICINA REPRODUTIVA / UROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: China