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Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis

PURPOSE: X-linked juvenile retinoschisis (XLRS) is a vitreoretinal dystrophy characterized by schisis (splitting) of the inner layers of the neuroretina. Mutations within the retinoschisis (RS1) gene are responsible for this disease. The mutation spectrum consists of amino acid substitutions, splice...

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Autori principali: D’Souza, Leera, Cukras, Catherine, Antolik, Christian, Craig, Candice, Lee, Ji-Yun, He, Hong, Li, Shibo, Smaoui, Nizar, Hejtmancik, James F., Sieving, Paul A., Wang, Xinjing
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3820431/
https://ncbi.nlm.nih.gov/pubmed/24227916
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