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Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation
BACKGROUND/AIM: X linked retinoschisis (XLRS) is caused by mutations in RS1 which encodes the discoidin domain protein retinoschisin, secreted by photoreceptors and bipolar cells. Missense mutations occur throughout the gene and some of these are known to interfere with protein secretion. This study...
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| Autores principales: | , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMJ Group
2006
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1856892/ https://ncbi.nlm.nih.gov/pubmed/16361673 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2005.078048 |
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