The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. (Q33682081)

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9 December 2019

review article

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title

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

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9 December 2019

main subject

photoreceptor protein

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1

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9 December 2019

Michael Dean

5

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9 December 2019

author name string

R A Lewis

2

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9 December 2019

R Allikmets

3

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9 December 2019

N Singh

4

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9 December 2019

M Leppert

6

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9 December 2019

J R Lupski

7

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9 December 2019

publication date

1 July 1999

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9 December 2019

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9 December 2019

volume

39

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9 December 2019

issue

15

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9 December 2019

page(s)

2537-2544

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

9 December 2019

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The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis

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

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Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease

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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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Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

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A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

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7 January 2021

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

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

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7 January 2021

Dietary fat and age-related maculopathy

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

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7 January 2021

A twin study of age-related macular degeneration

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7 January 2021

Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease

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7 January 2021

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

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7 January 2021

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Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

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Identifiers

DOI

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9 December 2019

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