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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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Detalhes bibliográficos
Main Authors: Wang, T, Zhou, A, Waters, C T, O'Connor, E, Read, R J, Trump, D
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Acesso em linha: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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