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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley Subscription Services, Inc., A Wiley Company 2012
Assuntos:
Research Articles
Acesso em linha: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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