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17851265
Source:
http://linkedlifedata.com/resource/pubmed/id/17851265
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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:C0035304
,
umls-concept:C0070435
,
umls-concept:C0205314
,
umls-concept:C0332281
,
umls-concept:C0439834
,
umls-concept:C0679622
,
umls-concept:C1850620
pubmed:issue
5
pubmed:dateCreated
2007-10-15
pubmed:abstractText
To identify the phenotypic variations in 6 related individuals affected by a novel mutation in the retinal degeneration slow/peripherin gene.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/0267442
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Arginine
,
http://linkedlifedata.com/resource/pubmed/chemical/Cysteine
,
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:issn
1423-0259
pubmed:author
pubmed-author:BandelloFrancescoF
,
pubmed-author:GarrèCeciliaC
,
pubmed-author:InterlandiEmanuelaE
,
pubmed-author:MariniValeriaV
,
pubmed-author:PognuzDerri RomanDR
,
pubmed-author:RossiSettimioS
,
pubmed-author:SimonelliFrancescaF
,
pubmed-author:TestaFrancescoF
,
pubmed-author:VirgiliGianniG
pubmed:copyrightInfo
(c) 2007 S. Karger AG, Basel.
pubmed:issnType
Electronic
pubmed:volume
39
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
255-9
pubmed:meshHeading
pubmed-meshheading:17851265-Aged
,
pubmed-meshheading:17851265-Arginine
,
pubmed-meshheading:17851265-Cysteine
,
pubmed-meshheading:17851265-Electrooculography
,
pubmed-meshheading:17851265-Electroretinography
,
pubmed-meshheading:17851265-Fluorescence
,
pubmed-meshheading:17851265-Fundus Oculi
,
pubmed-meshheading:17851265-Genetic Heterogeneity
,
pubmed-meshheading:17851265-Humans
,
pubmed-meshheading:17851265-Intermediate Filament Proteins
,
pubmed-meshheading:17851265-Membrane Glycoproteins
,
pubmed-meshheading:17851265-Middle Aged
,
pubmed-meshheading:17851265-Mutation
,
pubmed-meshheading:17851265-Nerve Tissue Proteins
,
pubmed-meshheading:17851265-Pedigree
,
pubmed-meshheading:17851265-Phenotype
,
pubmed-meshheading:17851265-Retinal Degeneration
,
pubmed-meshheading:17851265-Visual Acuity
pubmed:year
2007
pubmed:articleTitle
Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene.
pubmed:affiliation
Department of Ophthalmology, Second University of Naples, Naples, Italy. franctes@tin.it
pubmed:publicationType
Journal Article