Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa (Q28118750)

4 January 2017

title

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

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phototransduction, visible light

4 January 2017

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GOA release 2020-03-11

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GOA release 2020-03-11

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M. E. McLaughlin

1

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4 January 2017

M. A. Sandberg

series ordinal

2

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4 January 2017

E. L. Berson

series ordinal

3

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4 January 2017

T. P. Dryja

series ordinal

4

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4 January 2017

language of work or name

English

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publication date

1 June 1993

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4 January 2017

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4 January 2017

volume

4

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4 January 2017

issue

2

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4 January 2017

page(s)

130–134

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

4 January 2017

cites work

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

21 April 2017

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

21 April 2017

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

21 April 2017

1 reference

The sequence of human retinal S-antigen reveals similarities with alpha-transducin

21 April 2017

1 reference

Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina

21 April 2017

1 reference

Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-130

Primary structure and functional expression from complementary DNA of the rod photoreceptor cyclic GMP-gated channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-130

Prevalence of retinitis pigmentosa in Maine

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-130

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/10.1038%2FNG0693-130

7 January 2021

Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Identification of a conserved domain among cyclic nucleotide phosphodiesterases from diverse species

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Identification of a noncatalytic cGMP-binding domain conserved in both the cGMP-stimulated and photoreceptor cyclic nucleotide phosphodiesterases

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

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

https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: complete retinal cDNA sequence and evidence for expression in brain

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Bovine cone photoreceptor cGMP phosphodiesterase structure deduced from a cDNA clone

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

The Inheritance of a Retinal Abnormality in White Mice

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

On the Occurrence in the House Mouse of Mendelizing Structural Defect of the Retina Producing Blindness

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Retinal Degeneration in the Mouse Is Rodless Retina

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Cyclic GMP Accumulation Causes Degeneration of Photoreceptor Cells: Simulation of an Inherited Disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

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

https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Cyclic GMP in the retinas of normal mice and those heterozygous for early-onset photoreceptor dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Isolation and characterization of cDNA encoding the gamma-subunit of cGMP phosphodiesterase in human retina

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Recoverin: a Calcium Sensitive Activator of Retinal Rod Guanylate Cyclase

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

The receptor kinase family: primary structure of rhodopsin kinase reveals similarities to the beta-adrenergic receptor kinase

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Molecular cloning of a retina-specific membrane guanylyl cyclase

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

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https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Exclusion of DNA changes in the beta-subunit of the c-GMP phosphodiesterase gene as the cause for Huntington's disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Rod Responses in Retinitis Pigmentosa, Dominantly Inherited

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Narrow-band filtering for monitoring low-amplitude cone electroretinograms in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-130

7 January 2021

Identifiers

DOI

10.1038/NG0693-130

1 reference

Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017