Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1
about
Retinal dystrophies, genomic applications in diagnosis and prospects for therapyIntracellular transport of fat-soluble vitamins A and EBothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234WDisease-causing mutations in the cellular retinaldehyde binding protein tighten and abolish ligand interactionsRelease of 11-cis-retinal from cellular retinaldehyde-binding protein by acidic lipids.Self-reported quality of life in patients with retinitis pigmentosa and maculopathy of Bothnia typeFundus autofluorescence, optical coherence tomography, and electroretinogram findings in choroidal sclerosisThe retinal pigment epithelium in health and diseaseClinical features of a Japanese case with Bothnia dystrophy.Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.CRALBP supports the mammalian retinal visual cycle and cone vision.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.AAV-mediated RLBP1 gene therapy improves the rate of dark adaptation in Rlbp1 knockout miceIntegrative strategies to identify candidate genes in rodent models of human alcoholism.Clinical disorders affecting mesopic vision.Genetic isolates in ophthalmic diseases.Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescensMacular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).Nonclinical Safety Evaluation of scAAV8-RLBP1 for Treatment of RLBP1 Retinitis Pigmentosa.Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.Investigating the modulation of genetic effects on late AMD by age and sex: Lessons learned and two additional loci.Enhancing Understanding of the Visual Cycle by Applying CRISPR/Cas9 Gene Editing in Zebrafish.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.
P2860
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P2860
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1
description
2002 nî lūn-bûn
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2002 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2002 թվականի ապրիլին հրատարակված գիտական հոդված
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2002年の論文
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年學術文章
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name
Newfoundland rod-cone dystroph ...... ce-junction mutations in RLBP1
@ast
Newfoundland rod-cone dystroph ...... ce-junction mutations in RLBP1
@en
Newfoundland rod-cone dystroph ...... ce-junction mutations in RLBP1
@nl
type
label
Newfoundland rod-cone dystroph ...... ce-junction mutations in RLBP1
@ast
Newfoundland rod-cone dystroph ...... ce-junction mutations in RLBP1
@en
Newfoundland rod-cone dystroph ...... ce-junction mutations in RLBP1
@nl
prefLabel
Newfoundland rod-cone dystroph ...... ce-junction mutations in RLBP1
@ast
Newfoundland rod-cone dystroph ...... ce-junction mutations in RLBP1
@en
Newfoundland rod-cone dystroph ...... ce-junction mutations in RLBP1
@nl
P2093
P2860
P356
P1476
Newfoundland rod-cone dystroph ...... ce-junction mutations in RLBP1
@en
P2093
Christopher S Jackman
David W Stockton
Erica R Eichers
Gordon J Johnson
J Arch McNamara
James R Lupski
James Whelan
Jane S Green
P2860
P304
P356
10.1086/339688
P407
P577
2002-04-01T00:00:00Z