Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. - Wikidata - wikimedia - TriplyDB

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

http://www.wikidata.org/entity/Q39807416

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Cone rod dystrophies Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4 Retinal dystrophies, genomic applications in diagnosis and prospects for therapy Mammalian P4-ATPases and ABC transporters and their role in phospholipid transport Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes Molecular diagnosis of putative Stargardt disease by capture next generation sequencing Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy Phospholipid meets all-trans-retinal: the making of RPE bisretinoids Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1.Retinal very long-chain PUFAs: new insights from studies on ELOVL4 protein The retinal pigment epithelium in health and disease Simple and complex ABCR: genetic predisposition to retinal disease.Photoreceptor cell degeneration in Abcr (-/-) mice Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration Genetic basis of inherited macular dystrophies and implications for stem cell therapy.Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy.Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Metabolic syndrome triggered by high-fructose diet favors choroidal neovascularization and impairs retinal light sensitivity in the rat Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome.Structural and genetic assessment of the ABCA4-associated optical gap phenotype.Differential occurrence of mutations causative of eye diseases in the Chinese population.Analysis of the ABCA4 genomic locus in Stargardt disease.Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.Genetic and clinical analysis of ABCA4-associated disease in African American patients.Complement system dysregulation and inflammation in the retinal pigment epithelium of a mouse model for Stargardt macular degeneration.The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review.Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.The genetics of inherited macular dystrophies.Analysis of the ABCA4 gene by next-generation sequencing.A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.A-Subclass ATP-Binding Cassette Proteins in Brain Lipid Homeostasis and Neurodegeneration.Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa.Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation

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Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

http://www.wikidata.org/entity/Q39807416

description

2000 nî lūn-bûn

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2000年の論文

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2000年学术文章

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2000年学术文章

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2000年学术文章

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2000年學術文章

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2000年學術文章

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Mutations in the ABCA4 (ABCR) ...... recessive cone-rod dystrophy.

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Mutations in the ABCA4

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type

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Mutations in the ABCA4 (ABCR) ...... recessive cone-rod dystrophy.

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Mutations in the ABCA4

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Mutations in the ABCA4 (ABCR) ...... recessive cone-rod dystrophy.

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Mutations in the ABCA4

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American Journal of Human Genetics

P1476

Mutations in the ABCA4 (ABCR) ...... recessive cone-rod dystrophy.

@en

P2093

Blankenagel A

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Brunner HG

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Cremers FP

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Deutman AF

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Hoyng CB

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Klevering BJ

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Maugeri A

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Rohrschneider K

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P2860

Identification of the gene responsible for Best macular dystrophy

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

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960-966

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10.1086/303079

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