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Retinal Pigment Epithelium Defects in Humans and Mice with Mutations in MYO7A: Imaging Melanosome-Specific Autofluorescence

PURPOSE: Usher syndrome (USH) is a genetically heterogeneous disease with autosomal recessive deafness and blindness. Gene therapy is under development for use in the most common genetic variant of USH1, USH1B, which is caused by mutations in the MYO7A gene. This study was undertaken to identify an...

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Main Authors: Gibbs, Daniel, Cideciyan, Artur V., Jacobson, Samuel G., Williams, David S.
Formato: Artigo
Idioma:Inglês
Publicado: 2009
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2884175/
https://ncbi.nlm.nih.gov/pubmed/19324852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.09-3471
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