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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Wilkie, Susan E., Vaclavik, Veronika, Wu, Huimin, Bujakowska, Kinga, Chakarova, Christina F., Bhattacharya, Shomi S., Warren, Martin J., Hunt, David M.
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2008
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2324120/
https://ncbi.nlm.nih.gov/pubmed/18431455
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars