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The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice

PURPOSE: To determine the efficacy of multiple versions of a commercially available arrayed primer extension (APEX) microarray chip for autosomal recessive retinitis pigmentosa (arRP). METHODS: We included 250 probands suspected of arRP who were genetically analyzed with the APEX microarray between...

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Detalles Bibliográficos
Autores principales: van Huet, Ramon A. C., Pierrache, Laurence H.M., Meester-Smoor, Magda A., Klaver, Caroline C.W., van den Born, L. Ingeborgh, Hoyng, Carel B., de Wijs, Ilse J., Collin, Rob W. J., Hoefsloot, Lies H., Klevering, B. Jeroen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415583/
https://www.ncbi.nlm.nih.gov/pubmed/25999674