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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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| Päätekijät: | , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Oxford University Press
2010
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| Aiheet: | |
| Linkit: | 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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