Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
about
Retinal dystrophies, genomic applications in diagnosis and prospects for therapyProtein and Signaling Networks in Vertebrate Photoreceptor CellsInsights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis.Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.Changes in gene expression associated with retinal degeneration in the rd3 mouse.RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12.Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.Control of the Nucleotide Cycle in Photoreceptor Cell Extracts by Retinal Degeneration Protein 3.
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P2860
Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
description
2012 nî lūn-bûn
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2012年の論文
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name
Mutations in RD3 are associate ...... early onset retinal dystrophy.
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Mutations in RD3 are associate ...... early onset retinal dystrophy.
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Mutations in RD3 are associate ...... early onset retinal dystrophy.
@ast
Mutations in RD3 are associate ...... early onset retinal dystrophy.
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prefLabel
Mutations in RD3 are associate ...... early onset retinal dystrophy.
@ast
Mutations in RD3 are associate ...... early onset retinal dystrophy.
@en
P2093
P2860
P356
P1476
Mutations in RD3 are associate ...... early onset retinal dystrophy.
@en
P2093
Birgit Lorenz
Christoph Friedburg
Franz Rüschendorf
Manuel C Solbach
Markus N Preising
Nora Hausotter-Will
P2860
P304
P356
10.1167/IOVS.12-9519
P407
P577
2012-06-08T00:00:00Z