Identification of Disease-Causing Mutations in Autosomal Dominant Retinitis Pigmentosa (adRP) Using Next-Generation DNA Sequencing
Investigative Ophthalmology & Visual Science2010Vol. 52(1), pp. 494–494
Citations Over TimeTop 10% of 2010 papers
Sara J. Bowne, Lori S. Sullivan, Daniel C. Koboldt, Li Ding, Robert S. Fulton, Rachel M. Abbott, Erica Sodergren, David G. Birch, Dianna H. Wheaton, John R. Heckenlively, Qin Liu, Eric A. Pierce, George M. Weinstock, Stephen P. Daiger
Abstract
This project demonstrates that next-generation sequencing is an effective approach for detecting novel, rare mutations causing heterogeneous monogenic disorders such as RP. With the addition of this technology, disease-causing mutations can now be identified in 65% of autosomal dominant RP cases.
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