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The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells

Leber congenital amaurosis (LCA) caused by mutations in Aryl hydrocarbon receptor interacting protein like-1 (Aipl1) is a severe form of childhood blindness. At 4 weeks of age, a mouse model of LCA lacking AIPL1 exhibits complete degeneration of both rod and cone photoreceptors. Rod cell death occur...

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Detalhes bibliográficos
Main Authors: Kirschman, Lindsay T., Kolandaivelu, Saravanan, Frederick, Jeanne M., Dang, Loan, Goldberg, Andrew F.X., Baehr, Wolfgang, Ramamurthy, Visvanathan
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2010
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2830831/
https://ncbi.nlm.nih.gov/pubmed/20042464
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp571
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