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PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa

Proteins PRPF31, PRPF3 and PRPF8 (RP-PRPFs) are ubiquitously expressed components of the spliceosome, a macromolecular complex that processes nearly all pre-mRNAs. Although these spliceosomal proteins are conserved in eukaryotes and are essential for survival, heterozygous mutations in human RP-PRPF...

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Detalhes bibliográficos
Main Authors: Tanackovic, Goranka, Ransijn, Adriana, Thibault, Philippe, Abou Elela, Sherif, Klinck, Roscoe, Berson, Eliot L., Chabot, Benoit, Rivolta, Carlo
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3090192/
https://ncbi.nlm.nih.gov/pubmed/21378395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr094
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