(Q72759934)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8302543%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8302543%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference

J J Wroblewski

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8302543%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

J A Wells

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8302543%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

A Eckstein

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8302543%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

F Fitzke

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8302543%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

C Jubb

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8302543%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

T J Keen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8302543%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

C Inglehearn

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8302543%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

S Bhattacharya

8

1 reference

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29 October 2019

G B Arden

9

1 reference

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29 October 2019

M Jay

10

1 reference

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29 October 2019

publication date

1 January 1994

1 reference

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29 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8302543%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

volume

101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8302543%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

issue

1

1 reference

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29 October 2019

page(s)

12-22

1 reference

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Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

29 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931377-7

7 January 2021

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

1 reference

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7 January 2021

Autosomal dominant retinitis pigmentosa: Four new mutations in rhodopsin, one of them in the retinal attachment site

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931377-7

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/10.1016%2FS0161-6420%2894%2931377-7

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/10.1016%2FS0161-6420%2894%2931377-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931377-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931377-7

7 January 2021

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels

1 reference

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7 January 2021

Automated Light- and Dark- Adapted Perimetry for Evaluating Retinitis Pigmentosa

1 reference

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7 January 2021

Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation.

1 reference

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7 January 2021

Standard for clinical electroretinography. International Standardization Committee

1 reference

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7 January 2021

A modified ERG technique and the results obtained in X-linked retinitis pigmentosa

1 reference

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7 January 2021

Electroretinograms evoked in man by local uniform or patterned stimulation

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931377-7

7 January 2021

New clinical test of retinal function based upon the standing potential of the eye.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931377-7

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/10.1016%2FS0161-6420%2894%2931377-7

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/10.1016%2FS0161-6420%2894%2931377-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931377-7

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/10.1016%2FS0161-6420%2894%2931377-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931377-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931377-7

7 January 2021

Absence of receptor outer segments in the retina of rds mutant mice

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931377-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931377-7

7 January 2021

Changes in the localization and content of opsin during retinal development in the rds mutant mouse: immunocytochemistry and immunoassay

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931377-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931377-7

7 January 2021

Development and degeneration of retina in rds mutant mice: altered disc shedding pattern in the albino heterozygotes and its relation to light exposure

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931377-7

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/10.1016%2FS0161-6420%2894%2931377-7

7 January 2021

10.1016/S0161-6420(94)31377-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8302543%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference