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Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).
Habibi I, Falfoul Y, Todorova MG, Wyrsch S, Vaclavik V, Helfenstein M, Turki A, Matri KE, Matri LE, Schorderet DF. Habibi I, et al. Among authors: vaclavik v. Genes (Basel). 2019 Nov 21;10(12):953. doi: 10.3390/genes10120953. Genes (Basel). 2019. PMID: 31766397 Free PMC article.
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Bedoni N, Haer-Wigman L, Vaclavik V, Tran VH, Farinelli P, Balzano S, Royer-Bertrand B, El-Asrag ME, Bonny O, Ikonomidis C, Litzistorf Y, Nikopoulos K, Yioti GG, Stefaniotou MI, McKibbin M, Booth AP, Ellingford JM, Black GC, 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. Bedoni N, et al. Among authors: vaclavik v. Hum Mol Genet. 2016 Oct 15;25(20):4546-4555. doi: 10.1093/hmg/ddw282. Hum Mol Genet. 2016. PMID: 28173158 Free article.
49 results