A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

Tissue-specific alternative splicing is an important mechanism for providing spatiotemporal protein diversity. Here we show that an in-frame splice mutation in BBS8, one of the genes involved in pleiotropic Bardet-Biedl syndrome (BBS), is sufficient to cause nonsyndromic retinitis pigmentosa (RP). A...

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Detalhes bibliográficos
Main Authors: Riazuddin, S. Amer, Iqbal, Muhammad, Wang, Yue, Masuda, Tomohiro, Chen, Yuhng, Bowne, Sara, Sullivan, Lori S., Waseem, Naushin H., Bhattacharya, Shomi, Daiger, Stephen P., Zhang, Kang, Khan, Shaheen N., Riazuddin, Sheikh, Hejtmancik, J. Fielding, Sieving, Paul A., Zack, Donald J., Katsanis, Nicholas
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2869005/
https://ncbi.nlm.nih.gov/pubmed/20451172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.04.001
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