Human Cone Visual Pigment Deletions Spare Sufficient Photoreceptors to Warrant Gene Therapy

Human X-linked blue-cone monochromacy (BCM), a disabling congenital visual disorder of cone photoreceptors, is a candidate disease for gene augmentation therapy. BCM is caused by either mutations in the red (OPN1LW) and green (OPN1MW) cone photoreceptor opsin gene array or large deletions encompassi...

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Detalhes bibliográficos
Main Authors: Cideciyan, Artur V., Hufnagel, Robert B., Carroll, Joseph, Sumaroka, Alexander, Luo, Xunda, Schwartz, Sharon B., Dubra, Alfredo, Land, Megan, Michaelides, Michel, Gardner, Jessica C., Hardcastle, Alison J., Moore, Anthony T., Sisk, Robert A., Ahmed, Zubair M., Kohl, Susanne, Wissinger, Bernd, Jacobson, Samuel G.
Formato: Artigo
Idioma:Inglês
Publicado em: Mary Ann Liebert, Inc. 2013
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3868405/
https://ncbi.nlm.nih.gov/pubmed/24067079
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/hum.2013.153
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