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Title: Mutations in the polyglutamylase gene TTLL5, expressed in
photoreceptor cells and spermatozoa, are associated with cone-rod
degeneration and reduced male fertility.
Authors: Bedoni N, Haer-Wigman L, Vaclavik V, Tran HV, Farinelli P,
Balzano S, Royer-Bertrand B, El-Asrag ME, Bonny O, Ikonomidis C,
Litzistorf Y, Nikopoulos K, Yioti G, Stefaniotou M, McKibbin M,
Ellingford J, Booth AP, Black G, Toomes C, Inglehearn CF, Hoyng CB,
Bax N, Klaver CC, Thiadens AA, Murisier F, Schorderet DF, Ali M,
Cremers FP, Andréasson S, Munier FL, Rivolta C
Journal: Human molecular genetics
Year: 2016 Aug 22
DOI: 10.1093/hmg/ddw282