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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Bibliografski detalji
Glavni autori: Wilkie, Susan E., Vaclavik, Veronika, Wu, Huimin, Bujakowska, Kinga, Chakarova, Christina F., Bhattacharya, Shomi S., Warren, Martin J., Hunt, David M.
Format: Artigo
Jezik:Inglês
Izdano: Molecular Vision 2008
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2324120/
https://ncbi.nlm.nih.gov/pubmed/18431455
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