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Article

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

1 Mar 2009

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 19268277
DOI: 10.1016/j.ajhg.2009.02.005

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Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis PigmentosaPMID 19268277Read ↗

Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.Semantic proximity Read ↗

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.Semantic proximity Read ↗

Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.Semantic proximity Read ↗

Leber congenital amaurosis: Genes, proteins and disease mechanismsSemantic proximity Read ↗

Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine.Semantic proximity Read ↗

SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland.Semantic proximity Read ↗

Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.Semantic proximity Read ↗

Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.Semantic proximity Read ↗

A Novel Locus for Leber Congenital Amaurosis Maps to Chromosome 6qSemantic proximity Read ↗

A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosisSemantic proximity Read ↗

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaSemantic proximity Read ↗

Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review.Semantic proximity Read ↗

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