About: X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

scientific article published on 20 February 2002

Attributes	Values
rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 2002 (ast) наукова стаття, опублікована в лютому 2002 (uk) scientific article published on 20 February 2002 (en) مقالة علمية نشرت في 20 فبراير 2002 (ar)
publication date	wds:Q37216323-CF51AE59-86A3-4CD9-86D9-2F583BFBC82F
publication date	2002-02-20 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37216323-4E0079FD-8EFC-4F4E-9B8D-144F650172A6
language of work or name	English
cites work	wds:Q37216323-07827A98-EAE3-439A-94C9-6C52CC4B203A wds:Q37216323-135812C1-200B-4135-984A-91B8267F11FF wds:Q37216323-21EEACE8-6EA8-4C62-AC11-1381C5C7616D wds:Q37216323-3669E347-92D8-4B5B-9A49-DFC5023AD5C6 wds:Q37216323-3A437FE7-B992-459F-9E46-6E2B29B4F438 wds:Q37216323-3B955654-3145-45D9-9AC3-E5B8EEB598B8 wds:Q37216323-3EC37666-635B-40F4-B9A5-2DAE00DC935C wds:Q37216323-42890D87-640E-4892-BAD8-582613B139C5 wds:Q37216323-4493736A-A790-4CB3-97E1-999E13897862 wds:Q37216323-4D1254BC-EEA2-4807-B753-1F3959928105 wds:Q37216323-52DBA40F-071A-4432-8AB5-98C468D7EB4E wds:Q37216323-640287DA-538A-4698-89D8-4303D341D46C wds:Q37216323-6DB20335-6233-4E70-979A-97B1E73036B9 wds:Q37216323-737EBCA9-5949-4278-A752-45C76B4FF28A wds:Q37216323-95CEB315-198D-4B89-8872-411DC1177D4F wds:Q37216323-A66B14F4-E832-4FEB-A8A2-2DBC6AB7FEC5 wds:Q37216323-A88E354B-2BC9-4E2A-8A17-07BD51730458 wds:Q37216323-AB57A193-322E-4D26-9F07-653932CD021C wds:Q37216323-BB9BA79B-ACBA-4148-B887-2F02A72E51FC wds:Q37216323-C6CB460D-5531-42CA-9BE8-90F4769D17C7 wds:Q37216323-DBAF6A02-4A57-424B-A721-F8F0B55C1645 wds:Q37216323-E1E83EF8-DABF-48FE-B49B-553DA7742483 wds:Q37216323-EAAE6EF2-75A7-4BA7-89E3-FEC4A6AC7097
cites work	Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1). X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis X-linked progressive cone dystrophy. Clinical characteristics of affected males and female carriers Clinical and electroretinographic findings of female carriers and affected males in a progressive X-linked cone-rod dystrophy (COD-1) pedigree Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa Positional cloning of the gene for X-linked retinitis pigmentosa 2 Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3) Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 X-linked retinitis pigmentosa X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function Novel mutations of the RPGR gene in RP3 families Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15 X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11 X-linked retinitis pigmentosa. Profile of clinical findings Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3 X-linked cone dystrophy. An overlooked diagnosis? Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3. DNA carrier detection in X-linked progressive cone dystrophy
author name string	wds:Q37216323-319E3D5E-315B-42F6-A1AB-5D7FD63ED936 wds:Q37216323-37E886DA-B9A3-4E14-9C87-E2B529C786C8 wds:Q37216323-520301A3-0B8F-4924-9852-796641723FCE wds:Q37216323-701C7518-BABB-464B-8DA4-1DEAEC7A0A12 wds:Q37216323-AC7E1833-672E-41F3-8330-EB12259B9048 wds:Q37216323-C5C4652C-C210-451D-B264-8DF4BF06E9CD wds:Q37216323-D35CAD26-B5D5-47E5-9F23-E5F4BA4E021E wds:Q37216323-ED6F3B86-3748-4C45-8478-427EE0FE7513
author name string	Elias I Traboulsi Brian W Rigatti Michael B Gorin Tammy S Mah Gaiping Wen Tiina Alitalo Amy L Radak Corrine L Baic
rdfs:label	X-linked cone-rod dystrophy (nl) X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 (en) X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 (ast)
skos:prefLabel	X-linked cone-rod dystrophy (nl) X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 (en) X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 (ast)
name	X-linked cone-rod dystrophy (nl) X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 (en) X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 (ast)
author	wds:Q37216323-12FCE97B-CADE-4B91-87BA-A303FA784A91 wds:Q37216323-ECBE3C54-A5B6-41CF-AA85-D357363FDDED
author	Juliane Ramser F. Yesim Demirci
title	wds:Q37216323-71DE8A85-F88E-4C94-951A-0375DB47CC40
title	X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 (en)
page(s)	wds:Q37216323-A0D2DFEF-D98C-4380-9429-8CE505F612F2
page(s)	1049-1053

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 190 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software