Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). (Q43762306)

26 November 2017

Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). (English)

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26 November 2017

Eksandh L

1

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26 November 2017

Ekström U

2

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26 November 2017

Abrahamson M

3

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26 November 2017

Bauer B

4

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26 November 2017

Andréasson S

5

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26 November 2017

1 October 2001

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26 November 2017

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26 November 2017

79

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26 November 2017

5

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26 November 2017

524-530

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

26 November 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.790520.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.790520.X

Imaging localized retinal dysfunction with the multifocal electroretinogram

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.790520.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.790520.X

Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.790520.X

Multifocal electroretinography in patients with Stargardt's macular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.790520.X

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/10.1034%2FJ.1600-0420.2001.790520.X

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/10.1034%2FJ.1600-0420.2001.790520.X

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.790520.X

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/10.1034%2FJ.1600-0420.2001.790520.X

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.790520.X

Über familiäre, progressive Degeneration in der Maculagegend des Auges

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.790520.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.790520.X

The field topography of ERG components in man—I. The photopic luminance response

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.790520.X

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/10.1034%2FJ.1600-0420.2001.790520.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.790520.X

Stargardt disease: linkage to the ABCR gene region on 1p21-p22 in Scandinavian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.790520.X

7 January 2021

Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene

1 reference

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7 January 2021

Fundus flavimaculatus. A clinical classification

1 reference

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7 January 2021

Assessment of local retinal function in patients with retinitis pigmentosa using the multi-focal ERG technique

1 reference

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7 January 2021

Human Gene Mutation Database?A biomedical information and research resource

1 reference

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7 January 2021

ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy

1 reference

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7 January 2021

Multifocal electroretinography in retinitis pigmentosa

1 reference

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7 January 2021

Biochemical defects in ABCR protein variants associated with human retinopathies

1 reference

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7 January 2021

ABCR unites what ophthalmologists divide(s)

1 reference

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7 January 2021

10.1034/J.1600-0420.2001.790520.X

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DOI

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26 November 2017

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