(Q57785192)

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Clinical Features of a Previously Undescribed Codon 216 (proline to serine) Mutation in the Peripherin/Retinal Degeneration Slow Gene in Autosomal Dominant Retinitis Pigmentosa

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8058286%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8058286%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8058286%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

author name string

G A Fishman

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8058286%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

L D Gilbert

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8058286%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

K Vandenburgh

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8058286%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

V C Sheffield

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8058286%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

J R Heckenlively

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8058286%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

publication date

1 August 1994

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8058286%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8058286%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

101

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8058286%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8058286%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1409-1421

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8058286%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931156-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2931156-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931156-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2931156-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2931156-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Macular lesions associated with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931156-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Delayed rod dark adaptation in patients with Stargardt's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931156-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931156-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1016%2FS0161-6420%2894%2931156-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2894%2931156-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2931156-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2931156-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2931156-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2931156-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0161-6420(94)31156-0

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8058286%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8058286%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

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