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Reduced macular function in ABCA4 carriers.

Reduced macular function in ABCA4 carriers.

http://www.wikidata.org/entity/Q35862219

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Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.

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Reduced macular function in ABCA4 carriers.

http://www.wikidata.org/entity/Q35862219

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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Reduced macular function in ABCA4 carriers.

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Reduced macular function in ABCA4 carriers.

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Reduced macular function in ABCA4 carriers.

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Reduced macular function in ABCA4 carriers.

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Reduced macular function in ABCA4 carriers.

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Reduced macular function in ABCA4 carriers.

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Molecular Vision

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Reduced macular function in ABCA4 carriers

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Ulrika Kjellström

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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

The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)

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

Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments

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

Macular abnormalities in Italian patients with retinitis pigmentosa.

Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration

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scholarly article

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2015-07-17T00:00:00Z

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4506055

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