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12525556
Source:
http://linkedlifedata.com/resource/pubmed/id/12525556
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60
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0026882
,
umls-concept:C0030705
,
umls-concept:C0035334
,
umls-concept:C0086409
,
umls-concept:C0441748
,
umls-concept:C1421381
,
umls-concept:C1512456
,
umls-concept:C1836717
pubmed:issue
1
pubmed:dateCreated
2003-1-14
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Codon, Nonsense
,
http://linkedlifedata.com/resource/pubmed/chemical/Extracellular Matrix Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/USH2A protein, human
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1468-6244
pubmed:author
pubmed-author:AntiñoloGG
,
pubmed-author:AyusoCC
,
pubmed-author:BaigetMM
,
pubmed-author:BernalSS
,
pubmed-author:BorregoSS
,
pubmed-author:CalafMM
,
pubmed-author:Del RioEE
,
pubmed-author:GimenezAA
,
pubmed-author:MarconDD
,
pubmed-author:TrujilloM JMJ
pubmed:issnType
Electronic
pubmed:volume
40
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
e8
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed-meshheading:12525556-Adult
,
pubmed-meshheading:12525556-Amino Acid Substitution
,
pubmed-meshheading:12525556-Codon, Nonsense
,
pubmed-meshheading:12525556-DNA Mutational Analysis
,
pubmed-meshheading:12525556-Extracellular Matrix Proteins
,
pubmed-meshheading:12525556-Female
,
pubmed-meshheading:12525556-Gene Frequency
,
pubmed-meshheading:12525556-Genes, Recessive
,
pubmed-meshheading:12525556-Genetic Variation
,
pubmed-meshheading:12525556-Humans
,
pubmed-meshheading:12525556-Male
,
pubmed-meshheading:12525556-Middle Aged
,
pubmed-meshheading:12525556-Mutation, Missense
,
pubmed-meshheading:12525556-Pedigree
,
pubmed-meshheading:12525556-Phenotype
,
pubmed-meshheading:12525556-Polymorphism, Genetic
,
pubmed-meshheading:12525556-Retinitis Pigmentosa
,
pubmed-meshheading:12525556-Spain
pubmed:year
2003
pubmed:articleTitle
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.
pubmed:affiliation
Servei de Genètica, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain.
pubmed:publicationType
Journal Article
,
Research Support, Non-U.S. Gov't
,
Multicenter Study