The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe (Q42675016)

4 November 2017

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe (English)

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4 November 2017

Jaana Tammur

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Rosário Santos

Rosário Santos

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Susana Balcells

Susana Balcells

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Josseline Kaplan

Josseline Kaplan

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Jean-michel Rozet

Jean-Michel Rozet

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Guy Van Camp

Guy Van Camp

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Andres Metspalu

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Andres Metspalu

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Paula Jorge

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Han G. Brunner

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Han G Brunner

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Alessandra Maugeri

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Kris Flothmann

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Nadine Hemmrich

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Sofie Ingvast

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Eva Paloma

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Reshma Patel

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Francesco Testa

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Alan C Bird

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Carel B Hoyng

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Francesca Simonelli

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Rando Allikmets

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Shomi S Bhattacharya

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Michele D'Urso

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Roser Gonzàlez-Duarte

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Gerard J te Meerman

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Marianne Schwartz

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Claes Wadelius

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Bernhard H F Weber

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Frans P M Cremers

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1 March 2002

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European Journal of Human Genetics

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197-203

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200784

4 November 2017

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

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

21 January 2018

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Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium

21 January 2018

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Simple and complex ABCR: genetic predisposition to retinal disease

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

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

21 January 2018

1 reference

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Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

High carrier frequency of the 35delG deafness mutation in European populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

21 January 2018

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Salmonella typhi uses CFTR to enter intestinal epithelial cells.

21 January 2018

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Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

γ-Glutamyl-cysteine synthetase deficiency. A cause of hereditary hemolytic anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

7 January 2021

ABCR unites what ophthalmologists divide(s)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

7 January 2021

ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

7 January 2021

Biochemical defects in ABCR protein variants associated with human retinopathies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200784

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200784

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Dimensions Publication ID

4 November 2017

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1 reference