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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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Main Authors: Dias, Miguel de Sousa, Hernan, Imma, Pascual, Beatriz, Borràs, Emma, Mañé, Begoña, Gamundi, Maria José, Carballo, Miguel
格式: Artigo
語言:Inglês
出版: Molecular Vision 2013
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3611935/
https://ncbi.nlm.nih.gov/pubmed/23559859
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