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...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Wilkie, Susan E., Vaclavik, Veronika, Wu, Huimin, Bujakowska, Kinga, Chakarova, Christina F., Bhattacharya, Shomi S., Warren, Martin J., Hunt, David M.
التنسيق: نص
اللغة:English
منشور في: Molecular Vision 2008
الموضوعات:
Research Article
الوصول للمادة أونلاين:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2324120/
https://www.ncbi.nlm.nih.gov/pubmed/18431455

الانترنت

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2324120/
https://www.ncbi.nlm.nih.gov/pubmed/18431455

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