R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma

AIM: To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis (XLRS) and a rare condition of concomitant glaucoma. METHODS: Complete ophthalmic examinations were performed in the proband. The coding regions of the RS1 gene that encode retinoschisin w...

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Detalles Bibliográficos
Main Authors: Huang, Xiu-Feng, Tu, Chang-Sen, Xing, Dong-Jun, Gan, De-Kang, Xu, Ge-Zhi, Jin, Zi-Bing
Formato: Artigo
Idioma:Inglês
Publicado: International Journal of Ophthalmology Press 2014
Assuntos:
Monograph
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3951554/
https://ncbi.nlm.nih.gov/pubmed/24634885
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3980/j.issn.2222-3959.2014.01.31
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