(Q35432649)

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Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

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scholarly article

1 reference

Europe PubMed Central

8 August 2017

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus (English)

1 reference

Europe PubMed Central

8 August 2017

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

Stargardt disease

1 reference

based on heuristic

inferred from title

9

object named as

Munnich A

1 reference

Europe PubMed Central

8 August 2017

author name string

Rozet JM

1

1 reference

Europe PubMed Central

8 August 2017

Gerber S

2

1 reference

Europe PubMed Central

8 August 2017

Ghazi I

3

1 reference

Europe PubMed Central

8 August 2017

Perrault I

4

1 reference

Europe PubMed Central

8 August 2017

Ducroq D

5

1 reference

Europe PubMed Central

8 August 2017

Souied E

6

1 reference

Europe PubMed Central

8 August 2017

Cabot A

7

1 reference

Europe PubMed Central

8 August 2017

Dufier JL

8

1 reference

Europe PubMed Central

8 August 2017

Kaplan J

10

1 reference

Europe PubMed Central

8 August 2017

language of work or name

0 references

publication date

1 June 1999

1 reference

Europe PubMed Central

8 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

8 August 2017

36

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Europe PubMed Central

8 August 2017

6

1 reference

Europe PubMed Central

8 August 2017

447-451

1 reference

Europe PubMed Central

8 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734380

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734380

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734380

12 July 2018

A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734380

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734380

12 July 2018

Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734380

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734380

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734380

12 July 2018

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734380

12 July 2018

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734380

12 July 2018

A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734380

12 July 2018

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734380

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734380

7 December 2018

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

1 reference

https://pubmed.ncbi.nlm.nih.gov/10874631

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

1 reference

https://pubmed.ncbi.nlm.nih.gov/10874631

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

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