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Identification of Disease-Causing Mutations in Autosomal Dominant Retinitis Pigmentosa (adRP) Using Next-Generation DNA Sequencing
PURPOSE. To determine whether massively parallel next-generation DNA sequencing offers rapid and efficient detection of disease-causing mutations in patients with monogenic inherited diseases. Retinitis pigmentosa (RP) is a challenging application for this technology because it is a monogenic diseas...
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| Hlavní autoři: | , , , , , , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Association for Research in Vision and Ophthalmology, Inc.
2011
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3053293/ https://ncbi.nlm.nih.gov/pubmed/20861475 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.10-6180 |
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