Identifying retinal disease genes: how far have we come, how far do we have to go?
about
Inactivation of VCP/ter94 suppresses retinal pathology caused by misfolded rhodopsin in DrosophilaInsights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycleNEIBank: genomics and bioinformatics resources for vision research.'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degenerationA dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.The role of inflammation in the pathogenesis of age-related macular degeneration.Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosaIdentification of candidate genes for human retinal degeneration loci using differentially expressed genes from mouse photoreceptor dystrophy modelsInherited diseases of photoreceptors and prospects for gene therapy.Structural and molecular bases of rod photoreceptor morphogenesis and disease.Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation.Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.[Programmed cell death in the retina. Molecular mechanisms and therapeutic strategies].[Genetics of retinal dystrophies--an overview].A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.Visual detection, pattern discrimination and visual acuity in 14 strains of mice.
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Identifying retinal disease genes: how far have we come, how far do we have to go?
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2004 nî lūn-bûn
@nan
2004年の論文
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2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
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2004年论文
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2004年论文
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2004年论文
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Identifying retinal disease genes: how far have we come, how far do we have to go?
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Identifying retinal disease genes: how far have we come, how far do we have to go?
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Identifying retinal disease genes: how far have we come, how far do we have to go?
@ast
Identifying retinal disease genes: how far have we come, how far do we have to go?
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Identifying retinal disease genes: how far have we come, how far do we have to go?
@ast
Identifying retinal disease genes: how far have we come, how far do we have to go?
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P2860
P356
P1476
Identifying retinal disease genes: how far have we come, how far do we have to go?
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P2860
P304
17-27; discussion 27-36, 177-8
P356
10.1002/0470092645.CH3
P577
2004-01-01T00:00:00Z