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16153625
Source:
http://linkedlifedata.com/resource/pubmed/id/16153625
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Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0015127
,
umls-concept:C0039082
,
umls-concept:C0052190
,
umls-concept:C0205088
,
umls-concept:C0208721
,
umls-concept:C0229304
,
umls-concept:C0596260
,
umls-concept:C0599155
,
umls-concept:C1314792
,
umls-concept:C1706413
pubmed:issue
1-2
pubmed:dateCreated
2006-1-23
pubmed:databankReference
http://linkedlifedata.com/resource/pubmed/xref/OMIM/207750
,
http://linkedlifedata.com/resource/pubmed/xref/OMIM/238600
pubmed:abstractText
Chylomicronemia syndrome can be caused by 2 autosomal recessive disorders - lipoprotein lipase (LPL) deficiency and apolipoprotein C-II (apo C-II) deficiency.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/1302422
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Apolipoprotein C-II
,
http://linkedlifedata.com/resource/pubmed/chemical/Apolipoproteins C
,
http://linkedlifedata.com/resource/pubmed/chemical/Lipoprotein Lipase
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0009-8981
pubmed:author
pubmed-author:ChanYan-WoYW
,
pubmed-author:ChengWai-FunWF
,
pubmed-author:LamChing-WanCW
,
pubmed-author:TongSui-FanSF
,
pubmed-author:YuenYuet-PingYP
pubmed:issnType
Print
pubmed:volume
364
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
256-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:16153625-Apolipoprotein C-II
,
pubmed-meshheading:16153625-Apolipoproteins C
,
pubmed-meshheading:16153625-Base Sequence
,
pubmed-meshheading:16153625-Child, Preschool
,
pubmed-meshheading:16153625-Consanguinity
,
pubmed-meshheading:16153625-DNA Mutational Analysis
,
pubmed-meshheading:16153625-Female
,
pubmed-meshheading:16153625-Humans
,
pubmed-meshheading:16153625-Hyperlipoproteinemia Type I
,
pubmed-meshheading:16153625-Infant
,
pubmed-meshheading:16153625-Lipoprotein Lipase
,
pubmed-meshheading:16153625-Mutation, Missense
,
pubmed-meshheading:16153625-Sequence Homology, Nucleic Acid
,
pubmed-meshheading:16153625-Siblings
,
pubmed-meshheading:16153625-Syndrome
pubmed:year
2006
pubmed:articleTitle
Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome.
pubmed:affiliation
Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China. ching-wanlam@cuhk.edu.hk
pubmed:publicationType
Journal Article
,
Case Reports