Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
about
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaNovel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab familyMutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.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 pigmentosaClinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.
P2860
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P2860
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
description
2010 nî lūn-bûn
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2010年の論文
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2010年学术文章
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2010年学术文章
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2010年学术文章
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2010年学术文章
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2010年学术文章
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name
Spectrum of SPATA7 mutations i ...... n of the associated phenotype.
@en
Spectrum of SPATA7 mutations i ...... n of the associated phenotype.
@nl
type
label
Spectrum of SPATA7 mutations i ...... n of the associated phenotype.
@en
Spectrum of SPATA7 mutations i ...... n of the associated phenotype.
@nl
prefLabel
Spectrum of SPATA7 mutations i ...... n of the associated phenotype.
@en
Spectrum of SPATA7 mutations i ...... n of the associated phenotype.
@nl
P2093
P50
P356
P1433
P1476
Spectrum of SPATA7 mutations i ...... n of the associated phenotype.
@en
P2093
Bernard Puech
Emilie Mercé
Hélène Dollfus
Lucas Fares-Taie
Michael D Petersen
Nathalie Delphin
Olivier Roche
Sabine Defoort-Dhellemmes
Sylvain Hanein
Valérie Pelletier
P304
P356
10.1002/HUMU.21203
P50
P577
2010-03-01T00:00:00Z