טוען...

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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מידע ביבליוגרפי
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.
פורמט: Artigo
שפה:Inglês
יצא לאור: Association for Research in Vision and Ophthalmology, Inc. 2011
נושאים:
גישה מקוונת: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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