Next-generation genetic testing for retinitis pigmentosa

Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogeneity, with 52 causative genes known to date. Here, we developed a comprehensive next-generation sequencing (NGS) approach for the clinical molecular diagnostics of RP. All kno...

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Autori principali: Neveling, Kornelia, Collin, Rob W.J., Gilissen, Christian, van Huet, Ramon A.C., Visser, Linda, Kwint, Michael P., Gijsen, Sabine J., Zonneveld, Marijke N., Wieskamp, Nienke, de Ligt, Joep, Siemiatkowska, Anna M., Hoefsloot, Lies H., Buckley, Michael F., Kellner, Ulrich, Branham, Kari E., den Hollander, Anneke I., Hoischen, Alexander, Hoyng, Carel, Klevering, B. Jeroen, van den Born, L. Ingeborgh, Veltman, Joris A., Cremers, Frans P.M., Scheffer, Hans
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wiley Subscription Services, Inc., A Wiley Company 2012
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Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3490376/
https://ncbi.nlm.nih.gov/pubmed/22334370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22045
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