(Q74549892)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9587927%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9587927%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

U Ekström

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9587927%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

V Ponjavic

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9587927%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

M Abrahamson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9587927%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

P Nilsson-Ehle

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9587927%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

S Andrëasson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9587927%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

I Stenström

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9587927%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

B Ehinger

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9587927%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

publication date

1 March 1998

1 reference

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11 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9587927%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9587927%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

1

1 reference

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11 November 2019

page(s)

27-37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9587927%20AND%20SRC:MED&resulttype=core&format=json

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

11 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.19.1.27.2179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.19.1.27.2179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.19.1.27.2179

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.19.1.27.2179

DNA sequencing with chain-terminating inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.19.1.27.2179

A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.19.1.27.2179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.19.1.27.2179

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.19.1.27.2179

Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.19.1.27.2179

10.1076/OPGE.19.1.27.2179

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9587927%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference