(Q28268699)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485574%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485574%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference

4

1 reference

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13 October 2019

Edwin M. Stone

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485574%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

author name string

Nichols BE

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485574%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Sheffield VC

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485574%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Vandenburgh K

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485574%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Kimura AE

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485574%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

language of work or name

English

0 references

publication date

1 March 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485574%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485574%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

volume

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485574%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

page(s)

202-207

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485574%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485574%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng0393-202

13 October 2019

exact match

0 references

cites work

Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

1 reference

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

21 April 2017

1 reference

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

21 April 2017

1 reference

Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13

21 April 2017

1 reference

Pattern Dystrophy of the Retinal Pigment Epithelium

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

Butterfly--Shaped Pigment Dystrophy of the Fovea

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

Patterned dystrophies of the retinal pigment epithelium

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

Pigment epithelial pattern dystrophy. Four different manifestations in a family

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

The human retinal degeneration slow (RDS) gene: Chromosome assignment and structure of the mRNA

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

Poly (T/A) polymorphism at the human retinal degeneration slow (RDS) locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

Doyne's honeycomb retinal degeneration. Clinical and genetic features

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

Dominantly inherited drusen of Bruch's membrane

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

Senile macular degeneration: a case-control study.

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

Monozygotic Twins With Age-Related Macular Degeneration

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

Development and degeneration of retina in rds mutant mice: electron microscopy

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

Molecular genetics of human blue cone monochromacy

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

An electroretinographic and molecular genetic study of X-linked cone degeneration

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-202

7 January 2021

Identifiers

DOI

10.1038/NG0393-202

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485574%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference