about
Ceramide signaling in retinal degenerationLumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosisGene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutationsRetinal sphingolipids and their very-long-chain fatty acid-containing species.Delayed dark adaptation in 11-cis-retinol dehydrogenase-deficient mice: a role of RDH11 in visual processes in vivo.A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosisPremature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian FamiliesMolecular characterization of Leber congenital amaurosis in Koreans.Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.Sphingolipid profile alters in retinal dystrophic P23H-1 rats and systemic FTY720 can delay retinal degeneration.Inherited diseases of photoreceptors and prospects for gene therapy.Comprehensive analysis of genetic variations in strictly-defined Leber congenital amaurosis with whole-exome sequencing in Chinese.Retinal Degeneration Protein 3 (RD3) in normal human tissues: Novel insights.Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy.Gene therapy for inherited retinal and optic nerve degenerations.Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos.
P2860
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P2860
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
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
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Leber congenital amaurosis: a genetic paradigm.
@ast
Leber congenital amaurosis: a genetic paradigm.
@en
type
label
Leber congenital amaurosis: a genetic paradigm.
@ast
Leber congenital amaurosis: a genetic paradigm.
@en
prefLabel
Leber congenital amaurosis: a genetic paradigm.
@ast
Leber congenital amaurosis: a genetic paradigm.
@en
P2860
P1433
P1476
Leber congenital amaurosis: a genetic paradigm.
@en
P2093
Rando Allikmets
P2860
P356
10.1080/13816810490514261
P577
2004-06-01T00:00:00Z