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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 12, 2024. (Total: 232444Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Asthenozoospermia and SLC26A8[original query]
Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.
American journal of human genetics 2013 May 92 (5): 760-6.
Dirami Thassadite, Rode Baptiste, Jollivet Mathilde, Da Silva Nathalie, Escalier Denise, Gaitch Natacha, Norez Caroline, Tuffery Pierre, Wolf Jean-Philippe, Becq Frédéric, Ray Pierre F, Dulioust Emmanuel, Gacon Gérard, Bienvenu Thierry, Touré Amina
Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease.
Human mutation 2021 12 43 (3): 434-443.
Gao Yang, Wu Huan, Xu Yuping, Shen Qunshan, Xu Chuan, Geng Hao, Lv Mingrong, Tan Qing, Li Kuokuo, Tang Dongdong, Song Bing, Zhou Ping, Wei Zhaolian, He Xiaojin, Cao Yunx
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