Article
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
Scientific reports - 24 Jun 2016
Buena-Atienza Elena, Rüther Klaus, Baumann Britta, Bergholz Richard, Birch David, De Baere Elfride, Dollfus Helene, Greally Marie T, Gustavsson Peter, Hamel Christian P, Heckenlively John R, Leroy Bart P, Plomp Astrid S, Pott Jan Willem R, Rose Katherine, Rosenberg Thomas, Stark Zornitza, Verheij Joke B G M, Weleber Richard, Zobor Ditta, Weisschuh Nicole, Kohl Susanne, Wissinger Bernd
Abstract excerpt
X-linked cone dysfunction disorders such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete loss (of) or reduced L- and M- cone function due to defects in the OPN1LW/OPN1MW gene cluster. Here we investigated 24 affected males from 16 families with either a structurally intact gene cluster or at least one intact single (hybrid) gene but harbouring rare combinations of common SNPs...
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