About: Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

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rdf:type	Item
description	articolo scientifico (it) 1998 թվականի հունվարին հրատարակված գիտական հոդված (hy) 1998 թուականի Յունուարին հրատարակուած գիտական յօդուած (hyw) artículu científicu espublizáu en 1998 (ast) vědecký článek publikovaný v roce 1998 (cs) наукова стаття, опублікована в січні 1998 (uk) مقالة علمية (نشرت عام 1998) (ar) vedecký článok (publikovaný 1998/01/01) (sk) научни чланак (објављен 1998/01/01) (sr) wetenschappelijk artikel (gepubliceerd op 1998/01/01) (nl) scientific journal article (en) im Januar 1998 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q28117716-B0A7AAD2-362C-4A17-A48F-C12E467303CA
publication date	1998-01-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28117716-9B70AC36-A1DD-4D77-AB6F-4B62D52BEAE8
language of work or name	English
exact match	wds:Q28117716-21198946-59B3-4A98-95A7-92C3F8423A37
exact match	https://scigraph.springernature.com/pub.10.1038/ng0198-11
cites work	wds:Q28117716-03B914CE-D5E9-4C37-BF88-D990573805E8 wds:Q28117716-0617ED19-4D64-40EC-9F35-82A6ABAE06D5 wds:Q28117716-323D8C6A-21B7-4EF2-A320-4FD84BCF91DF wds:Q28117716-37B1902B-0D39-4379-849C-472A98D5A051 wds:Q28117716-3FF977B3-1E51-41FA-925B-C7B6DE27FA8A wds:Q28117716-51BF8463-C008-4F0C-831A-520F805C998C wds:Q28117716-68BFB1F2-F3B6-4E09-9362-81BB115051E9 wds:Q28117716-69FF5B31-A6FF-465C-AFAB-A1EF594B5E37 wds:Q28117716-91EFCCA9-2D07-4E52-B57E-03F46D810E93 wds:Q28117716-A58644BB-D317-42DC-ABFD-27D6410BCA5D wds:Q28117716-B3956C67-1A2A-4D16-A01E-6BEC2AA73D64 wds:Q28117716-B9B09F39-F793-4B51-A418-EB7D37211F98
cites work	Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR) The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy Molecular genetics of retinitis pigmentosa Cloning of the CDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21 Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.
author name string	wds:Q28117716-0012DE65-6EB3-4317-80CD-C6CD7F8B6FE2 wds:Q28117716-17E23CCC-0761-4BD9-A2C8-6CAD4A652455 wds:Q28117716-404C8102-D2CC-40A2-9CF5-6D53265930FA wds:Q28117716-562414D3-9918-4E48-91E8-943A0E649CDA wds:Q28117716-8D3F4D64-ED9D-4A38-8AE5-CF415C02B354 wds:Q28117716-F7666A87-1563-4C1E-8320-664DD4E60CB7
author name string	R. Gonzàlez-Duarte T. del Rio A. Martínez-Mir E. Paloma L. Vilageliu R. Allikmets
rdfs:label	Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR (en) Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR (nl) Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR (ast)
skos:prefLabel	Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR (en) Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR (nl) Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR (ast)
name	Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR (en) Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR (nl) Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR (ast)
author	wds:Q28117716-514B2C97-FAC1-4779-B591-D76C1D379D25 wds:Q28117716-A9CABC82-9824-4C4B-993E-CED2CB64E07E wds:Q28117716-E1120A25-91BE-46DB-B181-5B4047D286A2
author	Michael Dean Carmen Ayuso Susana Balcells
title	wds:Q28117716-5351EB9C-5A4B-4D16-B299-D6976C783D7B
title	Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR (en)
page(s)	wds:Q28117716-BCB383F2-48A7-4E62-92B0-692533F8AD67
page(s)	11–12
instance of	wds:Q28117716-1BF9F0D6-C962-4143-897C-0AFE4194A83B
instance of	scholarly article
main subject	wds:Q28117716-033FFB2D-4B8A-4D07-AC37-52E50B1F08AE wds:Q28117716-0D21ED73-3A3B-40B1-902F-6995BD9DFB39 wds:Q28117716-D5CCCDD1-C74B-41AA-A33F-3B2042A9BEE1
main subject	Stargardt disease retinitis pigmentosa homozygosity
PubMed ID	wds:Q28117716-FC054244-27AC-4492-95E4-71F43885C498
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/9425888
PubMed ID	9425888
published in	wds:Q28117716-652D1749-D962-4A6B-9684-611B881023DE
published in	Nature Genetics
issue	wds:Q28117716-2A7FAA73-8FD1-4935-929F-A6347B574A92
volume	wds:Q28117716-68AC881B-56BB-4FE0-8F46-C3E4837ED02B
issue	1
volume	18
DOI	wds:Q28117716-C552B3C4-370D-4078-BF0E-04647BB4339A
DOI	http://dx.doi.org/10.1038/NG0198-11
DOI	10.1038/NG0198-11
ResearchGate publication ID	wds:Q28117716-64F54B22-1964-4890-AF91-C4DEC05EEF2A
ResearchGate publication ID	13804206
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q28117716
is cites work of	Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Mammalian P4-ATPases and ABC transporters and their role in phospholipid transport Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

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