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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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| Autors principals: | , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2012
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| Matèries: | |
| Accés en línia: | 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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