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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: | , , , , , , |
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格式: | Artigo |
語言: | Inglês |
出版: |
Molecular Vision
2013
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主題: | |
在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3611935/ https://ncbi.nlm.nih.gov/pubmed/23559859 |
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