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Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa

Bardet-Biedl syndrome (BBS) is a genetic disorder affecting multiple systems and organs in the body. Several mutations in genes associated with BBS affect only photoreceptor cells and cause nonsyndromic retinitis pigmentosa (RP), raising the issue of why certain mutations manifest as a systemic diso...

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Dades bibliogràfiques
Publicat a:Mol Cell Biol
Autors principals: Murphy, Daniel, Singh, Ratnesh, Kolandaivelu, Saravanan, Ramamurthy, Visvanathan, Stoilov, Peter
Format: Artigo
Idioma:Inglês
Publicat: American Society for Microbiology 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4405636/
https://ncbi.nlm.nih.gov/pubmed/25776555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.00040-15
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