Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
about
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaRetinal dystrophies, genomic applications in diagnosis and prospects for therapyThe human rhodopsin kinase promoter in an AAV5 vector confers rod- and cone-specific expression in the primate retina.Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab familyRDH12 retinopathy: novel mutations and phenotypic description.The molecular basis of retinal dystrophies in pakistan.Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosaAAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosaMutation of SPATA7 in a family with autosomal recessive early-onset retinitis pigmentosaA mutation in IFT43 causes non-syndromic recessive retinal degeneration.Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.
P2860
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P2860
Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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name
Screening of SPATA7 in patient ...... als disease-causing mutations.
@en
type
label
Screening of SPATA7 in patient ...... als disease-causing mutations.
@en
prefLabel
Screening of SPATA7 in patient ...... als disease-causing mutations.
@en
P2093
P50
P356
P1476
Screening of SPATA7 in patient ...... eals disease-causing mutations
@en
P2093
Andrew R Webster
Anthony T Moore
Arundhati Dev Borman
Louise A Ocaka
Panagiotis I Sergouniotis
Phillip Moradi
P304
P356
10.1167/IOVS.10-7025
P407
P577
2011-05-09T00:00:00Z