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Misexpression of the Constitutive Rpgr(ex1-19) Variant Leads to Severe Photoreceptor Degeneration
PURPOSE. Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are a frequent cause of X-linked retinitis pigmentosa. The RPGR transcript undergoes complex alternative splicing to express both constitutive (Rpgr(ex1-19)) and Rpgr(ORF15) variants. Both variants localize to photoreceptor...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Association for Research in Vision and Ophthalmology, Inc.
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3176051/ https://ncbi.nlm.nih.gov/pubmed/21546531 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.11-7470 |
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