Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

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Inherited retinal degeneration (IRD) is a common cause of visual impairment (prevalence ∼1/3500). There is considerable phenotype and genotype heterogeneity, making a specific diagnosis very difficult without molecular testing. We investigated targeted capture combined with next-generation sequencin...

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Bibliografische gegevens
Hoofdauteurs: Shanks, M, Downes, S, Copley, R, Lise, S, Broxholme, J, Hudspith, K, Kwasniewska, A, Davies, W, Hankins, M, Packham, E, Clouston, P, Seller, A, Wilkie, A, Taylor, J, Ragoussis, J, Németh, A
Formaat: Journal article
Taal:English
Gepubliceerd in: 2013

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