(Q42675016)

4 November 2017

title

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

9

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Rosário Santos

Rosário Santos

23

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Susana Balcells

Susana Balcells

11

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Josseline Kaplan

Josseline Kaplan

21

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Jean-michel Rozet

Jean-Michel Rozet

8

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Guy Van Camp

Guy Van Camp

25

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Andres Metspalu

15

Andres Metspalu

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4 November 2017

Paula Jorge

5

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Han G. Brunner

13

Han G Brunner

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4 November 2017

Alessandra Maugeri

1

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4 November 2017

Kris Flothmann

2

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4 November 2017

Nadine Hemmrich

3

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4 November 2017

Sofie Ingvast

4

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4 November 2017

Eva Paloma

6

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4 November 2017

Reshma Patel

7

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4 November 2017

Francesco Testa

10

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4 November 2017

Alan C Bird

12

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4 November 2017

Carel B Hoyng

14

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4 November 2017

Francesca Simonelli

16

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4 November 2017

Rando Allikmets

17

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4 November 2017

Shomi S Bhattacharya

18

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4 November 2017

Michele D'Urso

19

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4 November 2017

Roser Gonzàlez-Duarte

20

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4 November 2017

Gerard J te Meerman

22

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4 November 2017

Marianne Schwartz

24

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4 November 2017

Claes Wadelius

26

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4 November 2017

Bernhard H F Weber

27

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4 November 2017

Frans P M Cremers

28

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4 November 2017

publication date

1 March 2002

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European Journal of Human Genetics

4 November 2017

published in

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4 November 2017

volume

10

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4 November 2017

issue

3

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4 November 2017

page(s)

197-203

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

4 November 2017

cites work

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

1 reference

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

1 reference

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

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

21 January 2018

1 reference

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

Simple and complex ABCR: genetic predisposition to retinal disease

21 January 2018

1 reference

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

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

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

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

1 reference

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

1 reference

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

Salmonella typhi uses CFTR to enter intestinal epithelial cells.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

1 reference

Dimensions Publication ID

4 November 2017

1041340162

0 references

1 reference