Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants. (Q37158087)

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17 January 2020

title

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants (English)

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17 January 2020

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17 January 2020

J Aguirre-Lamban

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17 January 2020

R Riveiro-Alvarez

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17 January 2020

S Maia-Lopes

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17 January 2020

D Cantalapiedra

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17 January 2020

E Vallespin

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17 January 2020

A Avila-Fernandez

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17 January 2020

C Villaverde-Montero

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17 January 2020

M J Trujillo-Tiebas

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17 January 2020

C Ramos

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17 January 2020

language of work or name

English

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publication date

21 November 2008

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19028736%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Ophthalmology

17 January 2020

published in

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17 January 2020

volume

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17 January 2020

issue

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17 January 2020

page(s)

614-621

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Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients

17 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

Organization of the ABCR gene: analysis of promoter and splice junction sequences

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

Age matters--thoughts on a grading system for ABCA4 mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668911

An analysis of ABCR mutations in British patients with recessive retinal dystrophies

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19028736

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

An analysis of allelic variation in the ABCA4 gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19028736

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Spectrum ofABCA4(ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19028736

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/BJO.2008.145193

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19028736%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

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17 January 2020

PubMed publication ID

19028736

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19028736%20AND%20SRC:MED&resulttype=core&format=json