The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

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The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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name

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

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The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

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type

Item

label

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

@en

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

@nl

prefLabel

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

@en

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

@nl

P1476

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

@en

P2093

Jana Zernant

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Janet R Sparrow

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Kaspar Schuerch

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

Koji Tanaka

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Lyam Ciccone

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Rando Allikmets

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Stephen H Tsang

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Winston Lee

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P2860

Predicting deleterious amino acid substitutions

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

Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.

A method and server for predicting damaging missense mutations

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

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

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

MutationTaster evaluates disease-causing potential of sequence alterations

Quantitative fundus autofluorescence in healthy eyes.

Quantitative fundus autofluorescence in recessive Stargardt disease

P304

89-99

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P31

scholarly article

P356

10.1016/J.OPHTHA.2017.07.019

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P433

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P478

125

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P577

2017-09-22T00:00:00Z

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P698

28947085

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P932

5846118

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