Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis

PURPOSE: To determine clinical phenotypes, examine the age dependency of X-linked juvenile retinoschisis (XLRS), and identify mutations in the retinoschisis1 gene (RS1) in 13 Hungarian (Caucasian) families with this disease. METHODS: This study included 72 members in 13 families. Complete ophthalmol...

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Autori principali: Lesch, B., Szabó, V., Kánya, M., Somfai, G.M., Vámos, R., Varsányi, B., Pámer, Zs., Knézy, K., Salacz, Gy., Janáky, M., Ferencz, M., Hargitai, J., Papp, A., Farkas, Á.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2008
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2603250/
https://ncbi.nlm.nih.gov/pubmed/19093009
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