(Q46652702)

24 December 2017

title

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies (English)

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24 December 2017

author

Theodore G. Wensel

5

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24 December 2017

James R. Lupski

7

object named as

James R Lupski

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24 December 2017

Milan Jamrich

4

object named as

Milan Jamrich

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24 December 2017

author name string

Wojciech Wiszniewski

1

1 reference

24 December 2017

Charles M Zaremba

2

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24 December 2017

Alexander N Yatsenko

3

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24 December 2017

Richard Alan Lewis

6

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24 December 2017

publication date

15 August 2005

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24 December 2017

published in

Human Molecular Genetics

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24 December 2017

volume

14

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24 December 2017

page(s)

2769-2778

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24 December 2017

issue

19

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24 December 2017

Immunocytochemical localization of a large intrinsic membrane protein to the incisures and margins of frog rod outer segment disks.

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI310

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/10.1093%2FHMG%2FDDI310

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/10.1093%2FHMG%2FDDI310

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI310

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI310

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI310

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI310

Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI310

Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI310

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI310

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/10.1093%2FHMG%2FDDI310

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI310

Functional analysis of genetic mutations in nucleotide binding domain 2 of the human retina specific ABC transporter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI310

21 January 2018

Identifiers

DOI

10.1093/HMG/DDI310

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24 December 2017

PubMed ID

16103129

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24 December 2017