Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants

The GUCY2D gene encodes retinal membrane guanylyl cyclase (RetGC1), a key component of the phototransduction machinery in photoreceptors. Mutations in GUCY2D cause Leber congenital amaurosis type 1 (LCA1), an autosomal recessive human retinal blinding disease. The effects of RetGC1 deficiency on hum...

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Main Authors: Jacobson, Samuel G., Cideciyan, Artur V., Peshenko, Igor V., Sumaroka, Alexander, Olshevskaya, Elena V., Cao, Lihui, Schwartz, Sharon B., Roman, Alejandro J., Olivares, Melani B., Sadigh, Sam, Yau, King-Wai, Heon, Elise, Stone, Edwin M., Dizhoor, Alexander M.
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2013
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Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3606011/
https://ncbi.nlm.nih.gov/pubmed/23035049
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds421
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