(Q70691294)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485575%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485575%20AND%20SRC:MED&resulttype=core&format=json

retinitis punctata albescens

13 October 2019

main subject

1 reference

Kajiwara K

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485575%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Sandberg MA

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485575%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Berson EL

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485575%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Dryja TP

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485575%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

publication date

1 March 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485575%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485575%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:8485575%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:8485575%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

page(s)

208-212

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485575%20AND%20SRC:MED&resulttype=core&format=json

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

13 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-208

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%2FNG0393-208

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%2FNG0393-208

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-208

7 January 2021

Nucleotide and predicted protein sequence of rat retinal degeneration slow (rds).

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-208

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%2FNG0393-208

7 January 2021

A new H-2-linked mutation, rds, causing retinal degeneration in the mouse

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-208

7 January 2021

Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-208

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-208

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-208

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-208

7 January 2021

mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-208

7 January 2021

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-208

7 January 2021

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-208

7 January 2021

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-208

7 January 2021

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-208

7 January 2021

Rod Responses in Retinitis Pigmentosa, Dominantly Inherited

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-208

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-208

7 January 2021

Identifiers

DOI

10.1038/NG0393-208

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485575%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference