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Whirlin Replacement Restores the Formation of the USH2 Protein Complex in Whirlin Knockout Photoreceptors

PURPOSE. Whirlin is the causative gene for Usher syndrome type IID (USH2D), a condition manifested as both retinitis pigmentosa and congenital deafness. Mutations in this gene cause disruption of the USH2 protein complex composed of USH2A and VLGR1 at the periciliary membrane complex (PMC) in photor...

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Autores principales: Zou, Junhuang, Luo, Ling, Shen, Zuolian, Chiodo, Vince A., Ambati, Balamurali K., Hauswirth, William W., Yang, Jun
Formato: Artigo
Lenguaje:Inglês
Publicado: Association for Research in Vision and Ophthalmology, Inc. 2011
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3081228/
https://ncbi.nlm.nih.gov/pubmed/21212183
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.10-6141
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