Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease
M Cadieux-Dion, E Andermann, P Lachance-Touchette, O Ansorge, C Meloche, A Barnabe, RI Kuzniecky, F Andermann, E Faught, S Leonberg, JA Damiano, SF Berkovic, GA Rouleau, P Cossette
Clinical Genetics | WILEY-BLACKWELL | Published : 2013
Awarded by Medical Research Council
This project was funded by La Fondation GO. M.C.-D. is supported by the Reseau de Medecine Genetique Appliquee, the Canadian Institutes of Health Research (CIHR) and the Fonds de la Recherche du Quebec-Sante (FRQS). P.C. and G.A.R. are supported by the CIHR. P.L.-T. is supported by the FRQS. J.A.D. and S.F.B. are supported by the National Health and Medical Research Council (Australia). The authors wish to thank the families for their participation in the study and Olivia Galante as well as Pawan Mann for technical assistance.