A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR

Chloride absorption and bicarbonate excretion through exchange by the solute carrier family 26 member 3 (SLC26A3) and cystic fibrosis transmembrane conductance regulator (CFTR) are crucial for many tissues including sperm and epithelia of the male reproductive tract. Homozygous SLC26A3 mutations cau...

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Publicado no:Sci Rep
Main Authors: Wedenoja, Satu, Khamaysi, Ahlam, Shimshilashvili, Liana, Anbtawe-Jomaa, Shireen, Elomaa, Outi, Toppari, Jorma, Höglund, Pia, Aittomäki, Kristiina, Holmberg, Christer, Hovatta, Outi, Tapanainen, Juha S., Ohana, Ehud, Kere, Juha
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5660164/
https://ncbi.nlm.nih.gov/pubmed/29079751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-14606-3
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