Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31

PURPOSE: Missense mutations in the splicing factor gene PRPF31 cause a dominant form of retinitis pigmentosa (RP11) with reduced penetrance. Missense mutations in PRPF31 have previously been shown to cause reduced protein solubility, suggesting insufficiency of functional protein as the disease mech...

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Detalhes bibliográficos
Main Authors: Wilkie, Susan E., Vaclavik, Veronika, Wu, Huimin, Bujakowska, Kinga, Chakarova, Christina F., Bhattacharya, Shomi S., Warren, Martin J., Hunt, David M.
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2008
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2324120/
https://ncbi.nlm.nih.gov/pubmed/18431455
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