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Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families

Multiple morphological abnormalities of the sperm flagella (MMAF) is a specific type of asthenoteratozoospermia, presenting with multiple morphological anomalies in spermatozoa, such as absent, bent, coiled, short, or irregular caliber flagella. Previous genetic studies revealed pathogenic mutations...

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Detalles Bibliográficos
Autores principales: Khan, Ihsan, Shah, Basit, Dil, Sobia, Ullah, Nadeem, Zhou, Jian-Teng, Zhao, Da-Ren, Zhang, Yuan-Wei, Jiang, Xiao-Hua, Khan, Ranjha, Khan, Asad, Ali, Haider, Zubair, Muhammad, Shah, Wasim, Zhang, Huan, Shi, Qing-Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8577262/
https://www.ncbi.nlm.nih.gov/pubmed/34100391
http://dx.doi.org/10.4103/aja.aja_26_21