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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
BACKGROUND: Inherited retinal disorders are clinically and genetically heterogeneous with more than 150 gene defects accounting for the diversity of disease phenotypes. So far, mutation detection was mainly performed by APEX technology and direct Sanger sequencing of known genes. However, these meth...
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| 主要な著者: | , , , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2012
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3352121/ https://ncbi.nlm.nih.gov/pubmed/22277662 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-8 |
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