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Leber congenital amaurosis linked to AIPL1: A mouse model reveals destabilization of cGMP phosphodiesterase

Leber congenital amaurosis (LCA4) has been linked to mutations in the photoreceptor-specific gene Aryl hydrocarbon interacting protein like 1 (Aipl1). To investigate the essential role of AIPL1 in retina, we generated a mouse model of LCA by inactivating the Aipl1 gene. In Aipl1(–/–) retinas, the ou...

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Detalhes bibliográficos
Main Authors: Ramamurthy, Visvanathan, Niemi, Gregory A., Reh, Thomas A., Hurley, James B.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2004
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC518850/
https://ncbi.nlm.nih.gov/pubmed/15365178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0404197101
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