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

Author:

Wedenoja Satu,Khamaysi Ahlam,Shimshilashvili Liana,Anbtawe-Jomaa Shireen,Elomaa Outi,Toppari JormaORCID,Höglund Pia,Aittomäki Kristiina,Holmberg Christer,Hovatta OutiORCID,Tapanainen Juha S.,Ohana Ehud,Kere JuhaORCID

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Reference67 articles.

1. Rowe, P., Compare, F., Hargreaves, T. & Mahmoud, A. WHO manual for standardized investigation and diagnosis of the infertile couple (2000).

2. Hotaling, J. & Carrell, D. T. Clinical genetic testing for male factor infertility: current applications and future directions. Andrology 2, 339–350 (2014).

3. Lin, Y. N. & Matzuk, M. M. Genetics of male fertility. Methods Mol. Biol. 1154, 25–37 (2014).

4. Hoglund, P. et al. Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat. Genet. 14, 316–319 (1996).

5. Moseley, R. H. et al. Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. Am. J. Physiol. 276, G185–92 (1999).

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