Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

Dominant mutations in the gene encoding the mRNA splicing factor PRPF31 cause retinitis pigmentosa, a hereditary form of retinal degeneration. Most of these mutations are characterized by DNA changes that lead to premature termination codons. We investigated 6 different PRPF31 mutations, represented...

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Detalhes bibliográficos
Principais autores: Rio Frio, Thomas, Wade, Nicholas M., Ransijn, Adriana, Berson, Eliot L., Beckmann, Jacques S., Rivolta, Carlo
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2008
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2262031/
https://ncbi.nlm.nih.gov/pubmed/18317597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI34211
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