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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Association for Research in Vision and Ophthalmology, Inc. 2011
Pynciau:
Articles
Mynediad Ar-lein: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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