(Q44446090)

3 December 2017

title

An ABCA4 genomic deletion in patients with Stargardt disease (English)

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3 December 2017

2

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3 December 2017

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James R Lupski

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3 December 2017

Alexander N Yatsenko

1

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3 December 2017

Richard A Lewis

series ordinal

3

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3 December 2017

publication date

1 June 2003

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3 December 2017

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3 December 2017

volume

21

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3 December 2017

issue

6

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3 December 2017

page(s)

636-644

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

3 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: identification of N-linked glycosylation sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 ( ABCA1) gene in Japanese patients with Tangier disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

Improvements in protein secondary structure prediction by an enhanced neural network

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

Molecules of the brain

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https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

GT repeats are associated with recombination on human chromosome 22.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

A unified view of polymer, dumbbell, and oligonucleotide DNA nearest-neighbor thermodynamics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

Positional cloning of the gene for X-linked retinitis pigmentosa 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

Genome architecture, rearrangements and genomic disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

Biochemical defects in ABCR protein variants associated with human retinopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

Use of silica gel polymer for DNA extraction with organic solvents

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https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.10219

7 January 2021

Identifiers

DOI

10.1002/HUMU.10219

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3 December 2017

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