Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF).

Liu, Wensheng; Sha, Yanwei; Li, Yang; Mei, Libin; Lin, Shaobin; Huang, Xianjing; Lu, Jinhua; Ding, Lu; Kong, Shuangbo; Lu, Zhongxian

Liu, Wensheng; Sha, Yanwei; Li, Yang; Mei, Libin; Lin, Shaobin; Huang, Xianjing; Lu, Jinhua; Ding, Lu; Kong, Shuangbo; Lu, Zhongxian.

Afiliación

Liu W; School of Pharmaceutical Sciences, State Key Laboratory of Cellular Stress Biology, Xiamen University, Xiamen, China.
Sha Y; Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, China.
Li Y; School of Pharmaceutical Sciences, State Key Laboratory of Cellular Stress Biology, Xiamen University, Xiamen, China.
Mei L; Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, China.
Lin S; Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, China.
Huang X; Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, China.
Lu J; Fujian Provincial Key Laboratory of Reproductive Health Research, Medical College of Xiamen University, Xiamen University, Xiamen, China.
Ding L; Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, China.
Kong S; Fujian Provincial Key Laboratory of Reproductive Health Research, Medical College of Xiamen University, Xiamen University, Xiamen, China.
Lu Z; School of Pharmaceutical Sciences, State Key Laboratory of Cellular Stress Biology, Xiamen University, Xiamen, China zhongxian@xmu.edu.cn.

J Med Genet ; 56(10): 678-684, 2019 10.

Article en En | MEDLINE | ID: mdl-31151990

Asunto(s)

Anomalías Múltiples/genética; Proteínas de Ciclo Celular/genética; Infertilidad Masculina/genética; Mutación con Pérdida de Función; Anomalías Múltiples/diagnóstico por imagen; Axonema/patología; Humanos; Infertilidad Masculina/diagnóstico por imagen; Masculino; Fenotipo; Motilidad Espermática/genética; Cola del Espermatozoide/patología; Espermatozoides/patología; Secuenciación del Exoma

Palabras clave

human infertility; multiple morphological abnormalities of flagella; whole-exome sequence

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Proteínas de Ciclo Celular / Mutación con Pérdida de Función / Infertilidad Masculina Tipo de estudio: Prognostic_studies Límite: Humans / Male Idioma: En Año: 2019 Tipo del documento: Article

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