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Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Bedoni, Nicola ; Haer-Wigman, Lonneke ; Vaclavik, Veronika ; Tran, Viet H. ; Farinelli, Pietro ; Balzano, Sara ; Royer-Bertrand, Beryl ; El-Asrag, Mohammed E. ; Bonny, Olivier ; Ikonomidis, Christos ; Litzistorf, Yan ; Nikopoulos, Konstantinos ; Yioti, Georgia G. ; Stefaniotou, Maria I. ; McKibbin, Martin ; Booth, Adam P. ; Ellingford, Jamie M. ; Black, Graeme C. ; Toomes, Carmel ; Inglehearn, Chris F. ; Hoyng, Carel B. ; Bax, Nathalie ; Klaver, Caroline C.W. ; Thiadens, Alberta A. ; Murisier, Fabien ; Schorderet, Daniel F. ; Ali, Manir ; Cremers, Frans P.M. ; Andréasson, Sten ; Munier, Francis L. ; Rivolta, Carlo

In: Human Molecular Genetics, 2016, vol. 25, no. 20, p. 4546-4555