Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia

The cystic fibrosis transmembrane conductance regulator (CFTR) is present in mature sperm and is required for sperm motility and capacitation. Both these processes are controlled by ions fluxes and are essential for fertilization. We have shown that SLC26A8, a sperm-specific member of the SLC26 fami...

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主要な著者: 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, Aminata
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2013
主題:
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オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3644633/
https://ncbi.nlm.nih.gov/pubmed/23582645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.03.016
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