(Q38335210)

2 September 2017

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa (English)

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2 September 2017

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B Jeroen Klevering

1

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2 September 2017

Suzanne Yzer

2

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2 September 2017

Klaus Rohrschneider

3

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2 September 2017

Marijke Zonneveld

4

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2 September 2017

Rando Allikmets

5

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2 September 2017

L Ingeborgh van den Born

6

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2 September 2017

Alessandra Maugeri

7

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2 September 2017

Carel B Hoyng

8

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2 September 2017

Frans P M Cremers

9

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2 September 2017

1 December 2004

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European Journal of Human Genetics

2 September 2017

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2 September 2017

12

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2 September 2017

12

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2 September 2017

1024-1032

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201258

2 September 2017

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

The ABCA4 gene in autosomal recessive cone-rod dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

ATP binding cassette transporter retina genotypes and age related macular degeneration: an analysis on exudative non-familial Japanese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

Progressive cone-rod degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

Clinical subtypes of cone-rod dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

The ABCR Gene in Recessive and Dominant Stargardt Diseases: A Genetic Pathway in Macular Degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

Spectrum ofABCA4(ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

7 January 2021

Molecular genetic analysis of ABCR gene in Japanese dry form age-related macular degeneration

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

7 January 2021

Standard for clinical electroretinography (1994 update)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

7 January 2021

A Multipurpose Optical System for Ophthalmic Electrodiagnosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

7 January 2021

Progressive cone dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

7 January 2021

Biochemical defects in ABCR protein variants associated with human retinopathies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201258

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201258

1 reference

Dimensions Publication ID

2 September 2017

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1 reference