Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing

PURPOSE: To devise an effective method for detecting mutations in 12 genes (CA4, CRX, IMPDH1, NR2E3, RP9, PRPF3, PRPF8, PRPF31, PRPH2, RHO, RP1, and TOPORS) commonly associated with autosomal dominant retinitis pigmentosa (adRP) that account for more than 95% of known mutations. METHODS: We used lon...

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Detalles Bibliográficos
Autores principales: Dias, Miguel de Sousa, Hernan, Imma, Pascual, Beatriz, Borràs, Emma, Mañé, Begoña, Gamundi, Maria José, Carballo, Miguel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611935/
https://www.ncbi.nlm.nih.gov/pubmed/23559859

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611935/
https://www.ncbi.nlm.nih.gov/pubmed/23559859

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