Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene

PURPOSE: To present the ocular findings of a Hungarian family with X-linked juvenile retinoschisis (XLRS) and to reveal a novel putative splice mutation leading to serious truncation of retinoschisin (RS1) protein. Our genetic results were compared to a mouse model of XLRS. METHODS: Complete ophthal...

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Main Authors: Lesch, Balázs, Szabó, Viktória, Kánya, Melinda, Varsányi, Balázs, Somfai, Gábor M., Hargitai, János, Vámos, Rita, Fiedler, Orsolya, Farkas, Ágnes
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2008
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2519029/
https://ncbi.nlm.nih.gov/pubmed/18728755
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