Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease

Item
http://www.wikidata.org/entity/Q28264805
A novel locus for Leber congenital amaurosis maps to chromosome 6qGenotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt diseaseThe 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 diseaseDifferential occurrence of mutations causative of eye diseases in the Chinese population.Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.Stargardt's disease and the ABCR gene.Structures and biogenetic analysis of lipofuscin bis-retinoids.Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.The ABCA4 gene in autosomal recessive cone-rod dystrophies.Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.Genetic risk factors and age-related macular degeneration (AMD).
P2860

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease

Item
http://www.wikidata.org/entity/Q28264805
description
1998 nî lūn-bûn
@nan
1998 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Complete exon-intron structure ...... s underlying Stargardt disease
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Complete exon-intron structure ...... s underlying Stargardt disease
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Complete exon-intron structure ...... s underlying Stargardt disease
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type
label
Complete exon-intron structure ...... s underlying Stargardt disease
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Complete exon-intron structure ...... s underlying Stargardt disease
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Complete exon-intron structure ...... s underlying Stargardt disease
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prefLabel
Complete exon-intron structure ...... s underlying Stargardt disease
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Complete exon-intron structure ...... s underlying Stargardt disease
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Complete exon-intron structure ...... s underlying Stargardt disease
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P1433
P1476
P2093
P304
P31
P356
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P478
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P698
P356
P1433
P1476
Complete exon-intron structure ...... s underlying Stargardt disease
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P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698