Genotyping microarray: Mutation screening in Spanish families with autosomal dominant retinitis pigmentosa

PURPOSE: Presently, 22 genes have been described in association with autosomal dominant retinitis pigmentosa (adRP); however, they explain only 50% of all cases, making genetic diagnosis of this disease difficult and costly. The aim of this study was to evaluate a specific genotyping microarray for...

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Detalles Bibliográficos
Autores principales: Blanco-Kelly, Fiona, García-Hoyos, María, Cortón, Marta, Ávila-Fernández, Almudena, Riveiro-Álvarez, Rosa, Giménez, Ascensión, Hernan, Inma, Carballo, Miguel, Ayuso, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3380913/
https://www.ncbi.nlm.nih.gov/pubmed/22736939

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3380913/
https://www.ncbi.nlm.nih.gov/pubmed/22736939

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