Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa

Pre-mRNA splicing by the spliceosome is an essential step in the maturation of nearly all human mRNAs. Mutations in six spliceosomal proteins, PRPF3, PRPF4, PRPF6, PRPF8, PRPF31 and SNRNP200, cause retinitis pigmentosa (RP), a disease characterized by progressive photoreceptor degeneration. All spli...

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Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: Linder, Bastian, Hirmer, Anja, Gal, Andreas, Rüther, Klaus, Bolz, Hanno Jörn, Winkler, Christoph, Laggerbauer, Bernhard, Fischer, Utz
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2014
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4226509/
https://ncbi.nlm.nih.gov/pubmed/25383878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0111754
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