(Q43202268)

16 November 2017

The ABCA4 gene in autosomal recessive cone-rod dystrophies (English)

1 reference

16 November 2017

2

1 reference

16 November 2017

Sylvie Gerber

3

0 references

Josseline Kaplan

object named as

Josseline Kaplan

11

0 references

Isabelle Perrault

object named as

Isabelle Perrault

4

0 references

Arnold Munnich

9

object named as

Arnold Munnich

1 reference

16 November 2017

8

Jean-Louis Dufier

1 reference

16 November 2017

6

Sylvain Hanein

1 reference

16 November 2017

1

Dominique Ducroq

1 reference

16 November 2017

Dabienne Barbet

5

1 reference

16 November 2017

Selim Hakiki

7

1 reference

16 November 2017

Christian Hamel

10

1 reference

16 November 2017

language of work or name

English

0 references

publication date

1 December 2002

1 reference

American Journal of Human Genetics

16 November 2017

1 reference

16 November 2017

71

1 reference

16 November 2017

6

1 reference

16 November 2017

1480-1482

1 reference

3' deletions cause aniridia by preventing PAX6 gene expression

16 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378601

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378601

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378601

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378601

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378601

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378601

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378601

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378601

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378601

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378601

Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378601

CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378601

Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378601

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378601

15 August 2018

Identifiers

DOI

10.1086/344829

1 reference

16 November 2017

1 reference

16 November 2017

PubMed publication ID

12515255

1 reference