(Q35310935)

7 August 2017

title

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

1 reference

7 August 2017

Klevering BJ

1

1 reference

7 August 2017

van Driel M

2

1 reference

7 August 2017

van de Pol DJ

3

1 reference

7 August 2017

Pinckers AJ

4

1 reference

7 August 2017

Cremers FP

5

1 reference

7 August 2017

Hoyng CB

6

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 August 1999

1 reference

British Journal of Ophthalmology

7 August 2017

published in

1 reference

7 August 2017

volume

83

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7 August 2017

issue

8

1 reference

7 August 2017

page(s)

914-918

1 reference

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723135

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723135

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723135

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723135

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723135

Clinical subtypes of cone-rod dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723135

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723135

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723135

Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723135

Functional evaluation in central retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723135

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723135

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723135

Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene

15 November 2018

1 reference

12 December 2020

Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene

1 reference

12 December 2020

A Multipurpose Optical System for Ophthalmic Electrodiagnosis

1 reference

12 December 2020

Cone and rod ERGs in degenerations of central retina

1 reference

12 December 2020

1 reference

12 December 2020

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

1 reference

12 December 2020

Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene

1 reference

12 December 2020

Genetic fine mapping of the gene for recessive Stargardt disease

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.83.8.914

1 reference

release_vjsesly5ojcbvba4bvbwcc7t7m

7 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/vjsesly5ojcbvba4bvbwcc7t7m

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1723135

1 reference

7 August 2017

1 reference