About: Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel

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About: Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel Goto Sponge NotDistinct Permalink

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description	articolo scientifico (it) artículu científicu espublizáu en 1998 (ast) vědecký článek publikovaný v roce 1998 (cs) 1998 թուականի Յուլիսին հրատարակուած գիտական յօդուած (hyw) наукова стаття, опублікована в липні 1998 (uk) 1998 թվականի հուլիսին հրատարակված գիտական հոդված (hy) مقالة علمية (نشرت في يوليو 1998) (ar) vedecký článok (publikovaný 1998/07/01) (sk) article scientifique publié en 1998 (fr) wetenschappelijk artikel (gepubliceerd op 1998/07/01) (nl) scientific journal article (en) im Juli 1998 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q28115254-CC473721-19E2-4CC7-8C08-FADAEEFA6784
publication date	1998-07-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28115254-B28E759D-99BD-4245-9F45-7BB8C985ED52
language of work or name	English
cites work	wds:Q28115254-0461CC42-D136-4F8D-8203-A315F47F1D04 wds:Q28115254-24F502EB-9EC3-4A91-8581-923C32185F2F wds:Q28115254-29FA66A6-AB25-496E-9D72-9395CFBB0E9A wds:Q28115254-3BFBDD14-BA70-47DC-A152-F73FF9B07CB6 wds:Q28115254-4D7FAB2E-1B45-4331-AA8C-5BC2AEA2C165 wds:Q28115254-682CDA16-57C7-4A1E-A090-02B087DBC35B wds:Q28115254-7174AC53-7885-413B-8309-539A04AD4488 wds:Q28115254-8388AEE6-0B6C-45AA-A321-AF9F3A945454 wds:Q28115254-9263569E-A043-4E4D-9EAD-B269DF07F090 wds:Q28115254-A3D5746C-7405-4DF9-A21C-21A04B8455DE wds:Q28115254-A6A3D83B-B84A-4E11-891D-3A698092D051 wds:Q28115254-A80DDB6E-9B31-4BF1-AD6C-DCB99F4D0C14 wds:Q28115254-C644FD81-7DA3-4D87-956E-5F41B7FD6A89 wds:Q28115254-ECDAFA4F-B2B6-4D24-B284-A701F50F93CD
cites work	Structure and function of cyclic nucleotide-gated channels Cyclic GMP contact points within the 63-kDa subunit and a 240-kDa associated protein of retinal rod cGMP-activated channels Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11 Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa Photoreceptor degeneration in vitamin A deprivation and retinitis pigmentosa: the equivalent light hypothesis. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness A putative cyclic nucleotide-gated channel is required for sensory development and function in C. elegans Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors Cloning and functional expression of a cyclic-nucleotide-gated channel from mammalian sperm Rod and cone photoreceptor cells express distinct genes for cGMP-gated channels. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype Molecular cloning, functional expression and chromosomal localization of a human homolog of the cyclic nucleotide-gated ion channel of retinal cone photoreceptors
author name string	wds:Q28115254-06F2BD78-1F1F-49B7-AA95-27E2077B5BA8 wds:Q28115254-1F9BC000-8BD0-4E3C-B19D-B6AC041309ED wds:Q28115254-298416FD-C714-4380-8D0B-DB2BAF31E27C wds:Q28115254-31AF0340-CCEA-45BC-B04D-2A5EFE94CAFD wds:Q28115254-A261686D-1E44-4AA7-9344-53B576B9693B wds:Q28115254-C22504DF-805D-436A-AFCB-51B5B929604A wds:Q28115254-ECD57F56-E643-40D8-8890-F71E6818A980
OpenCitations bibliographic resource ID	wds:Q28115254-B6E58A5F-5393-4BFC-A4D9-B8CAF0189836
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/4205926
author name string	B. Wissinger S. G. Jacobson L. T. Sharpe T. Marx E. Zrenner E. Apfelstedt-Sylla H. Jägle
OpenCitations bibliographic resource ID	4205926
rdfs:label	Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel (en) Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel (nl) Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel (ast)
skos:prefLabel	Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel (en) Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel (nl) Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel (ast)
name	Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel (en) Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel (nl) Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel (ast)
author	wds:Q28115254-7DD5F53B-63AE-4CD9-8109-1D0FADA2B0D9 wds:Q28115254-CFD37030-355F-4D3C-9462-8E1570F89984
author	Susanne Kohl Ian Giddings
title	wds:Q28115254-506F2E6A-69EC-42BA-B1E9-3FB003DE0A80
title	Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel (en)
page(s)	wds:Q28115254-FC45EE58-6D30-479F-A306-87ECD39A02C4
page(s)	257–259
instance of	wds:Q28115254-6C5A2387-1444-4BE5-80DC-8F742C33C4D2
instance of	scholarly article
main subject	wds:Q28115254-9796933E-E771-4D0C-BB24-272EFDE7634C
main subject	photoreceptor protein
PubMed ID	wds:Q28115254-A4960BB1-835C-43C7-B38D-7FED41EE8EB3
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/9662398
PubMed ID	9662398
published in	wds:Q28115254-635E5497-1396-469C-9668-DCC43D60FB29
published in	Nature Genetics
issue	wds:Q28115254-273D1FC1-3D32-475F-852E-57C3FBF53F86
volume	wds:Q28115254-5B0CAA70-9C98-455C-AAE5-1BFCD8E9911D
issue	3
volume	19
DOI	wds:Q28115254-DB749EE9-86CB-4DFB-AF41-939D2BA1692D
DOI	http://dx.doi.org/10.1038/935
DOI	10.1038/935
Springer Nature article ID	wds:Q28115254-6B2786C4-54F6-42D4-BDED-C40D93F8DFB3
Springer Nature article ID	10.1038/935
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q28115254
is cites work of	Genetic basis of total colourblindness among the Pingelapese islanders Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia

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