ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. - Wikidata - wikimedia - TriplyDB

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

http://www.wikidata.org/entity/Q36965613

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Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials.Quantitative fundus autofluorescence in recessive Stargardt disease Advances in imaging of Stargardt disease.Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.ABCA4 disease progression and a proposed strategy for gene therapy Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.Hereditary retinal eye diseases in childhood and youth affecting the central retina.Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.Comparison of Green Versus Blue Fundus Autofluorescence in -Related Retinopathy

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ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

http://www.wikidata.org/entity/Q36965613

description

2008 nî lūn-bûn

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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2008年论文

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2008年论文

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name

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

@en

type

label

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

@en

prefLabel

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

@en

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P1433

European Journal of Human Genetics

P1476

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies

@en

P2093

Agnes B Renner

http://www.w3.org/2001/XMLSchema#string

Antje Bernd

http://www.w3.org/2001/XMLSchema#string

Artur V Cideciyan

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Bernd Wissinger

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Günther Rudolph

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Herbert Jägle

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Simone Schaich

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Tanja Grau

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Ulrich Kellner

http://www.w3.org/2001/XMLSchema#string

Veronique B D Kitiratschky

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P2860

Cone rod dystrophies

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

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

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

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

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

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame

ABC transporters in lipid transport.

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812-819

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scholarly article

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10.1038/EJHG.2008.23

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7

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16

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Samuel G. Jacobson

Eberhart Zrenner

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2008-02-20T00:00:00Z

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5565872

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18285826

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2579899

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