Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)

Por Torniainen, Suvi, Freddara, Roberta, Routi, Taina, Gijsbers, Carolien, Catassi, Carlo, Höglund, Pia, Savilahti, Erkki, Järvelä, Irma
Publicado em 2009

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

Por 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
Publicado no Sci Rep (2017)