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

N Bedoni, L Haer-Wigman, V Vaclavik, VH Tran, P Farinelli, S Balzano, B Royer-Bertrand, ME El-Asrag, O Bonny, C Ikonomidis, Y Litzistorf, K Nikopoulos, GG Yioti, MI Stefaniotou, M McKibbin, AP Booth, JM Ellingford, GC Black, C Toomes, CF InglehearnCB Hoyng, N Bax, Caroline Klaver, Alberta Thiadens, F Murisier, DF Schorderet, M (Mehabat) Ali, FPM Cremers, S Andreasson, FL Munier, C Rivolta

Research output: Contribution to journalArticleAcademicpeer-review

30 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)4546-4555
Number of pages10
JournalHuman Molecular Genetics
Issue number20
Publication statusPublished - 2016

Research programs

  • EMC OR-01-60-01

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