(Q24540182)

English

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

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scholarly article

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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 (English)

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Stargardt disease

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based on heuristic

inferred from title

author name string

A Maugeri

1

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M A van Driel

2

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D J van de Pol

3

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B J Klevering

4

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F J van Haren

5

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N Tijmes

6

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A A Bergen

7

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K Rohrschneider

8

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A Blankenagel

9

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A J Pinckers

10

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N Dahl

11

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H G Brunner

12

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A F Deutman

13

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C B Hoyng

14

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F P Cremers

15

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language of work or name

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publication date

April 1999

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American Journal of Human Genetics

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64

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1024-35

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4

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A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377826

24 March 2017

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=1377826

24 March 2017

Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377826

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377826

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377826

24 March 2017

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377826

24 March 2017

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=1377826

24 March 2017

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377826

24 March 2017

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377826

24 March 2017

The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377826

24 March 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=1377826

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377826

24 March 2017

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=1377826

24 March 2017

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=1377826

24 March 2017

Cloning of two novel ABC transporters mapping on human chromosome 9

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377826

24 March 2017

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377826

27 September 2017

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377826

27 September 2017

Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377826

27 September 2017

A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377826

27 September 2017

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=1377826

27 September 2017

Stargardt's Disease and Fundus Flavimaculatus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377826

30 May 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=1377826

28 July 2018

X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377826

29 November 2018

Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10090887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic fine mapping of the gene for recessive Stargardt disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/10090887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation Frequency of Cystic Fibrosis Transmembrane Regulator is not Increased in Oligozoospermic Male Candidates For Intracytoplasmic Sperm Injection

1 reference

https://pubmed.ncbi.nlm.nih.gov/10090887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ABCR unites what ophthalmologists divide(s)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10090887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Über familiäre, progressive Degeneration in der Maculagegend des Auges

1 reference

https://api.crossref.org/works/10.1086%2F302323

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

1 reference

Consolidated OpenCitations Corpus – April 2017

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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