De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

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 structural...

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Publicado en:Sci Rep
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2016
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4919619/
https://ncbi.nlm.nih.gov/pubmed/27339364
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep28253
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