Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization. (Q37716568)

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25 January 2020

title

Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization (English)

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25 January 2020

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1

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25 January 2020

Markus H Kuehn

2

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25 January 2020

author name string

Roxana A Radu

3

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25 January 2020

G Stephanie Enriquez

4

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25 January 2020

Jade S East

5

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25 January 2020

Emily I Schindler

6

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Gabriel H Travis

7

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25 January 2020

Edwin M Stone

8

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language of work or name

English

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publication date

18 April 2012

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Investigative Ophthalmology Visual Science

25 January 2020

published in

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volume

53

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25 January 2020

issue

4

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25 January 2020

page(s)

1883-1894

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Transplantation of adult mouse iPS cell-derived photoreceptor precursors restores retinal structure and function in degenerative mice

25 January 2020

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A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration

23 August 2017

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Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

23 August 2017

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

23 August 2017

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

23 August 2017

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Information analysis of human splice site mutations

23 August 2017

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

23 August 2017

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

23 August 2017

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A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

23 August 2017

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1 September 2018

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1 September 2018

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1 September 2018

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1 September 2018

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1 September 2018

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3 December 2018

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12 December 2020

Retinitis pigmentosa with segmental massive retinal gliosis. An immunohistochemical, biochemical, and ultrastructural study

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12 December 2020

Improved method for obtaining 3-microns cryosections for immunocytochemistry

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12 December 2020

Retinal histopathology of an autopsy eye with advanced retinitis pigmentosa in a family with rhodopsin Glu181Lys

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12 December 2020

Electron microscopic observations of human retinitis pigmentosa, dominantly inherited

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12 December 2020

Application of acrylamide as an embedding medium in studies of lectin and antibody binding in the vertebrate retina

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12 December 2020

Dominantly inherited retinitis pigmentosa. Ultrastructure and biochemical analysis

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12 December 2020

Identifiers

DOI

10.1167/IOVS.12-9477

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22395892%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

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25 January 2020

PubMed publication ID

22395892

1 reference