Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR (Q28117716)

4 January 2017

title

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

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4 January 2017

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S. Balcells

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M. Dean

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C. Ayuso

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A. Martínez-Mir

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4 January 2017

E. Paloma

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4 January 2017

R. Allikmets

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4 January 2017

T. del Rio

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4 January 2017

L. Vilageliu

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4 January 2017

R. Gonzàlez-Duarte

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4 January 2017

language of work or name

English

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publication date

1 January 1998

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4 January 2017

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4 January 2017

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4 January 2017

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4 January 2017

page(s)

11–12

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Molecular genetics of retinitis pigmentosa

4 January 2017

cites work

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1038/NG0198-11

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