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Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families
OBJECTIVES: To identify disease-causing mutations in two Chinese families with autosomal dominant retinitis pigmentosa (adRP). DESIGN: Prospective analysis. PATIENTS: Two Chinese adRP families underwent genetic diagnosis. A specific hereditary eye disease enrichment panel (HEDEP) based on targeted e...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3822309/ https://ncbi.nlm.nih.gov/pubmed/24202059 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2013-004030 |
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