A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family

Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of asthenozoospermia categorized by immotile spermatozoa with abnormal flagella in ejaculate. Whole-exome sequencing (WES) is used to detect pathogenic variants in patients with MMAF. In this study, a novel homozygous...

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Detalles Bibliográficos
Autores principales: Dil, Sobia, Khan, Asad, Unar, Ahsanullah, Yang, Meng-Lei, Ali, Imtiaz, Zeb, Aurang, Zhang, Huan, Zhou, Jian-Teng, Zubair, Muhammad, Khan, Khalid, Bai, Shun, Shi, Qing-Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10226489/
https://www.ncbi.nlm.nih.gov/pubmed/36308074
http://dx.doi.org/10.4103/aja202274

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10226489/
https://www.ncbi.nlm.nih.gov/pubmed/36308074
http://dx.doi.org/10.4103/aja202274

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