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prp8 mutations that cause human Retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast
Prp8 protein is a highly conserved pre-mRNA splicing factor and a component of spliceosomal U5 snRNPs. Intriguingly, although it is ubiquitously expressed, mutations in the C-terminus of human Prp8p cause the retina-specific disease Retinitis pigmentosa (RP). The biogenesis of U5 snRNPs is poorly ch...
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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2007
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2584834/ https://ncbi.nlm.nih.gov/pubmed/17934474 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nsmb1303 |
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