(Q57785072)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9052636%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9052636%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

2

1 reference

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1 November 2019

Noah S Butler

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9052636%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

G A Fishman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9052636%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

K R Alexander

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9052636%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

L D Gilbert

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9052636%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

D J Derlacki

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9052636%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

publication date

1 February 1997

1 reference

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1 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9052636%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9052636%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9052636%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

299-306

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9052636%20AND%20SRC:MED&resulttype=core&format=json

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

1 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2897%2930320-0

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%2897%2930320-0

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%2897%2930320-0

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%2897%2930320-0

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%2897%2930320-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2897%2930320-0

7 January 2021

A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2897%2930320-0

7 January 2021

Heterozygous 'null allele' mutation in the human peripherin/RDS gene

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2897%2930320-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2897%2930320-0

7 January 2021

Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2897%2930320-0

7 January 2021

Retinitis Pigmentosa Associated With a Dominant Mutation in Codon 46 of the Peripherin/RDS Gene (Arginine-46-Stop)

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2897%2930320-0

7 January 2021

Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2897%2930320-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2897%2930320-0

7 January 2021

Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2897%2930320-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2897%2930320-0

7 January 2021

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%2897%2930320-0

7 January 2021

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%2897%2930320-0

7 January 2021

Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2897%2930320-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2897%2930320-0

7 January 2021

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%2897%2930320-0

7 January 2021

Macular lesions associated with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2897%2930320-0

7 January 2021

Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2897%2930320-0

7 January 2021

Hereditary macular dystrophy without visible fundus abnormality.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2897%2930320-0

7 January 2021

10.1016/S0161-6420(97)30320-0

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9052636%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference