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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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.
Format: Artigo
Sprog:Inglês
Udgivet: Mary Ann Liebert, Inc. 2013
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Research Articles
Online adgang: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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