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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Vydáno v:Sci Rep
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
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On-line přístup: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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