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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820431/
https://www.ncbi.nlm.nih.gov/pubmed/24227916

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820431/
https://www.ncbi.nlm.nih.gov/pubmed/24227916

Ejemplares similares