(Q28117716)

English

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

scientific journal article

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scholarly article

1 reference

4 January 2017

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

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4 January 2017

retinitis pigmentosa

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Stargardt disease

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Susana Balcells

object named as

S. Balcells

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M. Dean

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object named as

C. Ayuso

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author name string

A. Martínez-Mir

1

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4 January 2017

E. Paloma

2

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4 January 2017

R. Allikmets

3

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4 January 2017

T. del Rio

5

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4 January 2017

L. Vilageliu

7

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4 January 2017

R. Gonzàlez-Duarte

8

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4 January 2017

language of work or name

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publication date

1 January 1998

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4 January 2017

Nature Genetics

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4 January 2017

18

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4 January 2017

11–12

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4 January 2017

1

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4 January 2017

https://scigraph.springernature.com/pub.10.1038/ng0198-11

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Molecular genetics of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FNG0198-11

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0198-11

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FNG0198-11

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.

1 reference

https://api.crossref.org/works/10.1038%2FNG0198-11

7 January 2021

based on heuristic

inferred from DOI database lookup

A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21

1 reference

https://api.crossref.org/works/10.1038%2FNG0198-11

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FNG0198-11

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0198-11

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1038%2FNG0198-11

7 January 2021

based on heuristic

inferred from DOI database lookup

Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments

1 reference

https://api.crossref.org/works/10.1038%2FNG0198-11

7 January 2021

based on heuristic

inferred from DOI database lookup

The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)

1 reference

https://api.crossref.org/works/10.1038%2FNG0198-11

7 January 2021

based on heuristic

inferred from DOI database lookup

Cloning of the CDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies

1 reference

https://api.crossref.org/works/10.1038%2FNG0198-11

7 January 2021

based on heuristic

inferred from DOI database lookup

Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration

1 reference

https://api.crossref.org/works/10.1038%2FNG0198-11

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/NG0198-11

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1 reference

4 January 2017

ResearchGate publication ID

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