Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis

Gene mutations that encode retinoschisin (RS1) cause X-linked retinoschisis (XLRS), a form of juvenile macular and retinal degeneration that affects males. RS1 is an adhesive protein which is proposed to preserve the structural and functional integrity of the retina, but there is very little evidenc...

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Autores principales: Sergeev, Y.V., Caruso, R.C., Meltzer, M.R., Smaoui, N., MacDonald, I.M., Sieving, P.A.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2010
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2838538/
https://ncbi.nlm.nih.gov/pubmed/20061330
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq006
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