(Q43796217)

26 November 2017

title

Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina (English)

1 reference

26 November 2017

3

S P Daiger

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26 November 2017

J E Sears

1

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26 November 2017

T A Aaberg

series ordinal

2

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26 November 2017

D M Moshfeghi

series ordinal

4

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26 November 2017

language of work or name

English

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publication date

1 November 2001

1 reference

American Journal of Ophthalmology

26 November 2017

published in

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26 November 2017

volume

132

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26 November 2017

issue

5

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26 November 2017

page(s)

693-699

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Butterfly--Shaped Pigment Dystrophy of the Fovea

26 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

Congenital deaf-mutism in a family sith dystrophia reticularis laminae pigmentosae retinae (Sjögren)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

7 January 2021

[Fundus pulverulentus]

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

The human gene mutation database

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

Standard for clinical electroretinography (1994 update)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

Standard for clinical electro-oculography. International Society for Clinical Electrophysiology of Vision.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

A survey on intron and exon lengths

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

Macular disease resembling adult foveomacular vitelliform dystrophy in older adults

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

Foveomacular vitelliform dystrophy, adult type. A clinicopathologic study including electron microscopic observations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

Histopathologic features of adult-onset foveomacular pigment epithelial dystrophy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901179-5

10.1016/S0002-9394(01)01179-5

7 January 2021

Identifiers

DOI

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26 November 2017

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