(Q61386370)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11385708%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies (English)

1 reference

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8 November 2019

5

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8 November 2019

author name string

E Paloma

1

1 reference

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8 November 2019

A Martínez-Mir

2

1 reference

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8 November 2019

L Vilageliu

3

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8 November 2019

R Gonzàlez-Duarte

4

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8 November 2019

publication date

1 June 2001

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8 November 2019

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8 November 2019

volume

17

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8 November 2019

issue

6

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8 November 2019

page(s)

504-510

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

8 November 2019

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families

21 January 2018

1 reference

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

The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

21 January 2018

1 reference

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 January 2018

1 reference

The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.

21 January 2018

1 reference

21 January 2018

1 reference

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

21 January 2018

1 reference

Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease

21 January 2018

1 reference

Biochemical defects in ABCR protein variants associated with human retinopathies

21 January 2018

1 reference

ABCR unites what ophthalmologists divide(s)

21 January 2018

1 reference

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

Molecular genetics of age-related macular degeneration: current status

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.1133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11385708%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference