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Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR
Mutations in RPGR (retinitis pigmentosa GTPase regulator) are the most common cause of X-linked RP, a severe blindness disorder. RPGR mutations result in clinically variable disease with early- to late-onset phenotypic presentation. Molecular mechanisms underlying such heterogeneity are unclear. Her...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5062589/ https://ncbi.nlm.nih.gov/pubmed/26936822 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw075 |
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