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18710658
Source:
http://linkedlifedata.com/resource/pubmed/id/18710658
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Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0017337
,
umls-concept:C0020792
,
umls-concept:C0026882
,
umls-concept:C0151718
,
umls-concept:C0205666
,
umls-concept:C1426592
,
umls-concept:C1524003
pubmed:issue
1-2
pubmed:dateCreated
2008-9-15
pubmed:abstractText
Characterization of the normally occurring mutations as the cause of hypocholesterolemia may increase our understanding of the normal lipid metabolism.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/1302422
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Apolipoprotein B-100
,
http://linkedlifedata.com/resource/pubmed/chemical/Cholesterol
,
http://linkedlifedata.com/resource/pubmed/chemical/PCSK9 protein, human
,
http://linkedlifedata.com/resource/pubmed/chemical/Serine Endopeptidases
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0009-8981
pubmed:author
pubmed-author:BergeKnut ErikKE
,
pubmed-author:LerenTrond PTP
pubmed:issnType
Print
pubmed:volume
397
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
92-5
pubmed:meshHeading
pubmed-meshheading:18710658-Adult
,
pubmed-meshheading:18710658-Apolipoprotein B-100
,
pubmed-meshheading:18710658-Cholesterol
,
pubmed-meshheading:18710658-Exons
,
pubmed-meshheading:18710658-Female
,
pubmed-meshheading:18710658-Genetic Predisposition to Disease
,
pubmed-meshheading:18710658-Humans
,
pubmed-meshheading:18710658-Introns
,
pubmed-meshheading:18710658-Male
,
pubmed-meshheading:18710658-Middle Aged
,
pubmed-meshheading:18710658-Mutation
,
pubmed-meshheading:18710658-Serine Endopeptidases
pubmed:year
2008
pubmed:articleTitle
Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia.
pubmed:affiliation
Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, NO 0027 Oslo, Norway. trond.leren@rikshospitalet.no
pubmed:publicationType
Journal Article