(Q72617807)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8244346%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8244346%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference

M Saga

1

1 reference

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27 October 2019

Y Mashima

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8244346%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

K Akeo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8244346%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Y Oguchi

4

1 reference

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27 October 2019

J Kudoh

5

1 reference

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27 October 2019

N Shimizu

6

1 reference

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27 October 2019

publication date

1 November 1993

1 reference

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27 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8244346%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

92

1 reference

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27 October 2019

issue

5

1 reference

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27 October 2019

page(s)

519-521

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8244346%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00216463

27 October 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane

1 reference

12 December 2020

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

1 reference

12 December 2020

Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00216463

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8244346%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference