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A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration
Late-onset retinal macular degeneration (L-ORD) is an autosomal dominant inherited disorder caused by a single missense mutation (S163R) in the CTRP5/C1QTNF5 protein. Early phenotypic features of L-ORD include: dark adaptation abnormalities, nyctalopia, and drusen deposits in the peripheral macular...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3080610/ https://ncbi.nlm.nih.gov/pubmed/21349921 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr080 |
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