The Efemp1(R345W) Macular Dystrophy Mutation Causes Amplified Circadian and Photophobic Responses to Light in Mice

PURPOSE: The R345W mutation in EFEMP1 causes malattia leventinese, an autosomal dominant eye disease with pathogenesis similar to an early-onset age-related macular degeneration. In mice, Efemp1(R345W) does not cause detectable degeneration but small subretinal deposits do accumulate. The purpose of...

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Detalles Bibliográficos
Autores principales: Thompson, Stewart, Blodi, Frederick R., Larson, Demelza R., Anderson, Michael G., Stasheff, Steven F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2019
Materias:
Retina
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735810/
https://www.ncbi.nlm.nih.gov/pubmed/31095679
http://dx.doi.org/10.1167/iovs.19-26881

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735810/
https://www.ncbi.nlm.nih.gov/pubmed/31095679
http://dx.doi.org/10.1167/iovs.19-26881

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