About: Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase

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About: Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase Goto Sponge NotDistinct Permalink

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scientific journal article

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rdf:type	Item
description	articolo scientifico (it) vědecký článek publikovaný v roce 1995 (cs) artículu científicu espublizáu en 1995 (ast) наукова стаття, опублікована в грудні 1995 (uk) 1995 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած (hyw) 1995 թվականի դեկտեմբերին հրատարակված գիտական հոդված (hy) مقالة علمية (نشرت في ديسمبر 1995) (ar) vedecký článok (publikovaný 1995/12/01) (sk) wetenschappelijk artikel (gepubliceerd op 1995/12/01) (nl) article scientifique publié en 1995 (fr) im Dezember 1995 veröffentlichter wissenschaftlicher Artikel (de) scientific journal article (en)
publication date	wds:Q28118318-1AFB1E1C-2987-4916-9EB2-3568D3BEB498
publication date	1995-12-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28118318-93EFED05-F4D2-4ADD-AB16-CD6D0A969A6A
language of work or name	English
exact match	wds:Q28118318-40E3A263-F542-47FD-9219-100CFD1DFA80
exact match	https://scigraph.springernature.com/pub.10.1038/ng1295-468
cites work	wds:Q28118318-0614477E-A633-48E0-B022-831628B2D8E6 wds:Q28118318-0FF3B6DF-A034-4833-BDFC-A02E4ED4CAB9 wds:Q28118318-197F2B94-90BC-408F-BB79-DB4F1E66A23F wds:Q28118318-2B2CC989-25AA-4428-93CF-CDDDB4FD3EA6 wds:Q28118318-30EEFB05-DD2A-4E01-8C38-7CB75AF136AB wds:Q28118318-55427B4D-C54D-4683-A315-66D151F79263 wds:Q28118318-5578E5F4-8FED-48E3-B609-E63F4C0B95D4 wds:Q28118318-65916563-14E6-487B-99EC-DE060571A4DF wds:Q28118318-7846F670-198C-49DB-B057-5A5801683945 wds:Q28118318-81F34513-68C5-4C5F-AF04-7BF44B27398D wds:Q28118318-82C5EA57-A9B7-4918-8784-CEF4016ABABC wds:Q28118318-8436E3D6-E37A-4424-BE56-5906E8DDB42D wds:Q28118318-8F32016F-F9E0-4D7D-BE21-99DDBB678AD4 wds:Q28118318-98F161AF-959D-447C-990E-7644E6276644 wds:Q28118318-9DDD9CC3-52B9-499C-B1A6-D0F51508B4D1 wds:Q28118318-A346232C-20AF-4965-BF4C-A7A58F42B237 wds:Q28118318-ABFAAC6A-9B63-4110-A79C-FB9E33CD448E wds:Q28118318-BA4C9945-DA98-4093-9D73-4D9CDEBBE202 wds:Q28118318-CE6FC996-B5E8-4916-8DFA-9A4F64030881 wds:Q28118318-D2998CAE-5050-4B52-BA7B-386C61409FBB wds:Q28118318-D70A6A24-3582-4BFD-8755-FBF5FEACDE7A wds:Q28118318-DA53A820-50AB-476B-A96D-E5E91BF15B22 wds:Q28118318-DD48FE32-4F4A-4E8F-ADB1-32711810CBA4 wds:Q28118318-DE78472B-3E9E-4750-9FE6-73FA2B9DA651 wds:Q28118318-E37887DC-93ED-49A3-BE3F-3506EABBFEA8 wds:Q28118318-F2924A3A-F494-417A-95EF-031739E6C41C wds:Q28118318-F5C68A37-CC07-480D-A4F5-C9A2227E71A4
cites work	Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3 Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene Identification of a conserved domain among cyclic nucleotide phosphodiesterases from diverse species Cyclic GMP Accumulation Causes Degeneration of Photoreceptor Cells: Simulation of an Inherited Disease Rod-Cone Dysplasia in Irish Setters: A Defect in Cyclic GMP Metabolism in Visual Cells A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene Bovine cone photoreceptor cGMP phosphodiesterase structure deduced from a cDNA clone The membrane binding domain of rod cGMP phosphodiesterase is posttranslationally modified by methyl esterification at a C-terminal cysteine Complete cDNA sequences of mouse rod photoreceptor cGMP phosphodiesterase α- and β-subunits, and identification of β′-, a putative β-subunit isozyme produced by alternative splicing of the β-subunit gene Cyclic GMP phosphodiesterase from bovine retina. Amino acid sequence of the alpha-subunit and nucleotide sequence of the corresponding cDNA A point mutation of the rhodopsin gene in one form of retinitis pigmentosa Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase Molecular genetics of retinitis pigmentosa Cyclic GMP cascade of vision Isolation of a putative phospholipase C gene of Drosophila, norpA, and its role in phototransduction. An electroretinographic and molecular genetic study of X-linked cone degeneration Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. Studies of the Drosophila norpA phototransduction mutant. II. Photoreceptor degeneration and rhodopsin maintenance
author name string	wds:Q28118318-0DEEAD07-58D4-4018-9273-3196F73541E1 wds:Q28118318-243C69F7-BA41-4C08-B4E1-334E604F0855 wds:Q28118318-2C04A7A7-7DF3-41E0-951E-5C562C558FFD wds:Q28118318-36FBEFE8-8268-4BBB-9F39-CB8A6975C012 wds:Q28118318-6CAD9120-A639-417A-82D3-A070F3CA8588 wds:Q28118318-8722C6F2-F6A5-4F80-BD3C-EC6129C95F5E
OpenCitations bibliographic resource ID	wds:Q28118318-38DD8B0B-06C8-466F-A7FE-005DCE422066
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/4126388
author name string	X. Huang E. L. Berson L. Oliveira S. H. Huang S. J. Pittler T. P. Dryja
OpenCitations bibliographic resource ID	4126388
rdfs:label	Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase (en) Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase (nl) Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase (ast)
skos:prefLabel	Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase (en) Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase (nl) Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase (ast)
name	Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase (en) Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase (nl) Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase (ast)
title	wds:Q28118318-94856FAD-6FD0-4DDE-BD2C-042ABE2C0479
title	Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase (en)
page(s)	wds:Q28118318-967F1958-5122-4DB6-815F-3C993CBBF3AA

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