Identification of Disease-Causing Mutations in Autosomal Dominant Retinitis Pigmentosa (adRP) Using Next-Generation DNA Sequencing

PURPOSE. To determine whether massively parallel next-generation DNA sequencing offers rapid and efficient detection of disease-causing mutations in patients with monogenic inherited diseases. Retinitis pigmentosa (RP) is a challenging application for this technology because it is a monogenic diseas...

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Detalhes bibliográficos
Main Authors: Bowne, Sara J., Sullivan, Lori S., Koboldt, Daniel C., Ding, Li, Fulton, Robert, Abbott, Rachel M., Sodergren, Erica J., Birch, David G., Wheaton, Dianna H., Heckenlively, John R., Liu, Qin, Pierce, Eric A., Weinstock, George M., Daiger, Stephen P.
Formato: Artigo
Idioma:Inglês
Publicado em: Association for Research in Vision and Ophthalmology, Inc. 2011
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3053293/
https://ncbi.nlm.nih.gov/pubmed/20861475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.10-6180
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