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17504850
Source:
http://linkedlifedata.com/resource/pubmed/id/17504850
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0017337
,
umls-concept:C0026882
,
umls-concept:C0070435
,
umls-concept:C0205292
,
umls-concept:C0271093
,
umls-concept:C0449774
,
umls-concept:C1421210
,
umls-concept:C1524003
,
umls-concept:C1855465
pubmed:issue
11
pubmed:dateCreated
2007-10-19
pubmed:abstractText
To describe the phenotype and to analyse the peripherin/RDS gene in 10 unrelated families with multifocal pattern dystrophy simulating Stargardt disease (STGD1).
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/0421041
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Intermediate Filament Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Glycoproteins
,
http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/peripherin
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0007-1161
pubmed:author
pubmed-author:BoonCamiel J FCJ
,
pubmed-author:CremersFrans P MFP
,
pubmed-author:HoyngCarel BCB
,
pubmed-author:KleveringB JeroenBJ
,
pubmed-author:TheelenThomasT
,
pubmed-author:Zonneveld-VrielingMarijke NMN
,
pubmed-author:den HollanderAnneke IAI
,
pubmed-author:van Lith-VerhoevenJanneke J CJJ
,
pubmed-author:van SchooneveldMary JMJ
pubmed:issnType
Print
pubmed:volume
91
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1504-11
pubmed:dateRevised
2010-11-2
pubmed:meshHeading
pubmed-meshheading:17504850-Adult
,
pubmed-meshheading:17504850-Electroretinography
,
pubmed-meshheading:17504850-Female
,
pubmed-meshheading:17504850-Humans
,
pubmed-meshheading:17504850-Intermediate Filament Proteins
,
pubmed-meshheading:17504850-Male
,
pubmed-meshheading:17504850-Membrane Glycoproteins
,
pubmed-meshheading:17504850-Middle Aged
,
pubmed-meshheading:17504850-Mutation
,
pubmed-meshheading:17504850-Nerve Tissue Proteins
,
pubmed-meshheading:17504850-Pedigree
,
pubmed-meshheading:17504850-Phenotype
,
pubmed-meshheading:17504850-Retinal Degeneration
,
pubmed-meshheading:17504850-Visual Acuity
,
pubmed-meshheading:17504850-Visual Fields
pubmed:year
2007
pubmed:articleTitle
Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.
pubmed:affiliation
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
pubmed:publicationType
Journal Article