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Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
scientific journal article
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scholarly article
1 reference
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PubMed
PubMed ID
8394174
retrieved
4 January 2017
title
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
(English)
1 reference
stated in
PubMed
PubMed ID
8394174
retrieved
4 January 2017
main subject
patient
0 references
Phosphodiesterase 6B
1 reference
stated in
GOA release 2020-03-11
phototransduction, visible light
1 reference
stated in
GOA release 2020-03-11
retinitis pigmentosa
1 reference
based on heuristic
inferred from title
author name string
M. E. McLaughlin
series ordinal
1
1 reference
stated in
PubMed
PubMed ID
8394174
retrieved
4 January 2017
M. A. Sandberg
series ordinal
2
1 reference
stated in
PubMed
PubMed ID
8394174
retrieved
4 January 2017
E. L. Berson
series ordinal
3
1 reference
stated in
PubMed
PubMed ID
8394174
retrieved
4 January 2017
T. P. Dryja
series ordinal
4
1 reference
stated in
PubMed
PubMed ID
8394174
retrieved
4 January 2017
language of work or name
English
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publication date
1 June 1993
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stated in
PubMed
PubMed ID
8394174
retrieved
4 January 2017
published in
Nature Genetics
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stated in
PubMed
PubMed ID
8394174
retrieved
4 January 2017
volume
4
1 reference
stated in
PubMed
PubMed ID
8394174
retrieved
4 January 2017
page(s)
130–134
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stated in
PubMed
PubMed ID
8394174
retrieved
4 January 2017
issue
2
1 reference
stated in
PubMed
PubMed ID
8394174
retrieved
4 January 2017
exact match
https://scigraph.springernature.com/pub.10.1038/ng0693-130
0 references
cites work
A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038/NG0693-130
retrieved
21 April 2017
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038/NG0693-130
retrieved
21 April 2017
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene
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Crossref
reference URL
https://api.crossref.org/works/10.1038/NG0693-130
retrieved
21 April 2017
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038/NG0693-130
retrieved
21 April 2017
The sequence of human retinal S-antigen reveals similarities with alpha-transducin
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reference URL
https://api.crossref.org/works/10.1038/NG0693-130
retrieved
21 April 2017
Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038/NG0693-130
retrieved
21 April 2017
Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
21 January 2018
Primary structure and functional expression from complementary DNA of the rod photoreceptor cyclic GMP-gated channel
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
21 January 2018
Prevalence of retinitis pigmentosa in Maine
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
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7 January 2021
based on heuristic
inferred from DOI database lookup
Rhodopsin mutations in autosomal dominant retinitis pigmentosa
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
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7 January 2021
based on heuristic
inferred from DOI database lookup
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
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
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a conserved domain among cyclic nucleotide phosphodiesterases from diverse species
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a noncatalytic cGMP-binding domain conserved in both the cGMP-stimulated and photoreceptor cyclic nucleotide phosphodiesterases
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: complete retinal cDNA sequence and evidence for expression in brain
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
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7 January 2021
based on heuristic
inferred from DOI database lookup
Bovine cone photoreceptor cGMP phosphodiesterase structure deduced from a cDNA clone
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Inheritance of a Retinal Abnormality in White Mice
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Crossref
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https://api.crossref.org/works/10.1038%2FNG0693-130
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7 January 2021
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inferred from DOI database lookup
On the Occurrence in the House Mouse of Mendelizing Structural Defect of the Retina Producing Blindness
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
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7 January 2021
based on heuristic
inferred from DOI database lookup
Retinal Degeneration in the Mouse Is Rodless Retina
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cyclic GMP Accumulation Causes Degeneration of Photoreceptor Cells: Simulation of an Inherited Disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The effects of light and dark adaptation on the levels of cyclic nucleotides in retinas of mice heterozygous for a gene for photoreceptor dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cyclic GMP in the retinas of normal mice and those heterozygous for early-onset photoreceptor dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
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7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
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7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation and characterization of cDNA encoding the gamma-subunit of cGMP phosphodiesterase in human retina
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recoverin: a Calcium Sensitive Activator of Retinal Rod Guanylate Cyclase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The receptor kinase family: primary structure of rhodopsin kinase reveals similarities to the beta-adrenergic receptor kinase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular cloning of a retina-specific membrane guanylyl cyclase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Exclusion of DNA changes in the beta-subunit of the c-GMP phosphodiesterase gene as the cause for Huntington's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rod Responses in Retinitis Pigmentosa, Dominantly Inherited
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Narrow-band filtering for monitoring low-amplitude cone electroretinograms in retinitis pigmentosa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0693-130
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/NG0693-130
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4126391
OpenCitations bibliographic resource ID
4126391
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4126391
PubMed ID
8394174
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4126391
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