A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella.

Zhang, Xueguang; Shen, Ying; Wang, Xiang; Yuan, Guiping; Zhang, Chaoliang; Yang, Yihong

Zhang, Xueguang; Shen, Ying; Wang, Xiang; Yuan, Guiping; Zhang, Chaoliang; Yang, Yihong.

Afiliación

Zhang X; Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, China.
Shen Y; Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, China.
Wang X; Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, China.
Yuan G; Analytical and Testing Center, Sichuan University, Chengdu, China.
Zhang C; State Key Laboratory of Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China.
Yang Y; Reproduction Medical Center of West China Second University Hospital, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu, China.

Clin Genet ; 96(6): 541-548, 2019 12.

Article en En | MEDLINE | ID: mdl-31571197

Asunto(s)

Infertilidad Masculina/genética; Proteínas de la Membrana/genética; Mutación/genética; Proteínas de Unión al ARN/genética; Cola del Espermatozoide/patología; Adulto; Secuencia de Aminoácidos; Animales; Astenozoospermia/genética; Astenozoospermia/patología; Estudios de Casos y Controles; Codón sin Sentido/genética; Femenino; Homocigoto; Humanos; Mutación con Pérdida de Función; Masculino; Ratones; Linaje; Fenotipo; Semen/metabolismo; Cola del Espermatozoide/ultraestructura; Testículo/metabolismo

Palabras clave

CFAP65; MMAF; WES; gene mutations; male infertility

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cola del Espermatozoide / Proteínas de Unión al ARN / Infertilidad Masculina / Proteínas de la Membrana / Mutación Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Animals / Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2019 Tipo del documento: Article País de afiliación: China

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