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Identification of Disease-Causing Mutations in Autosomal Dominant Retinitis Pigmentosa (adRP) Using Next-Generation DNA Sequencing
2011
Investigative Ophthalmology and Visual Science
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 disease in individuals and families but is highly heterogeneous in patient populations. RP has multiple patterns of inheritance, with mutations in many genes for each inheritance pattern and numerous,
doi:10.1167/iovs.10-6180
pmid:20861475
pmcid:PMC3053293
fatcat:cjwxdpaqxbbfjdqebhhoqoovui