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16460718
Source:
http://linkedlifedata.com/resource/pubmed/id/16460718
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0020557
,
umls-concept:C0021289
,
umls-concept:C0152035
,
umls-concept:C0205314
,
umls-concept:C0544885
,
umls-concept:C0679622
,
umls-concept:C1416902
pubmed:issue
1-2
pubmed:dateCreated
2006-5-30
pubmed:abstractText
Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder characterized by hypertriglyceridemia. The genetic defect lies in a mutation of the LPL gene.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/1302422
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Codon, Nonsense
,
http://linkedlifedata.com/resource/pubmed/chemical/Cysteine
,
http://linkedlifedata.com/resource/pubmed/chemical/Leucine
,
http://linkedlifedata.com/resource/pubmed/chemical/Lipoprotein Lipase
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0009-8981
pubmed:author
pubmed-author:ButWai-manWM
,
pubmed-author:ChanAngel On-keiAO
,
pubmed-author:LauGene Tze-chinGT
,
pubmed-author:ShekChi-chungCC
,
pubmed-author:TseWing-yeeWY
pubmed:issnType
Print
pubmed:volume
368
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
120-4
pubmed:meshHeading
pubmed-meshheading:16460718-Asian Continental Ancestry Group
,
pubmed-meshheading:16460718-Base Sequence
,
pubmed-meshheading:16460718-Codon, Nonsense
,
pubmed-meshheading:16460718-Cysteine
,
pubmed-meshheading:16460718-Female
,
pubmed-meshheading:16460718-Genotype
,
pubmed-meshheading:16460718-Humans
,
pubmed-meshheading:16460718-Hypertriglyceridemia
,
pubmed-meshheading:16460718-Infant, Newborn
,
pubmed-meshheading:16460718-Leucine
,
pubmed-meshheading:16460718-Lipid Metabolism
,
pubmed-meshheading:16460718-Lipoprotein Lipase
,
pubmed-meshheading:16460718-Male
,
pubmed-meshheading:16460718-Pedigree
pubmed:year
2006
pubmed:articleTitle
A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia.
pubmed:affiliation
Department of Pathology, Queen Elizabeth Hospital, Hong Kong, China. okangelchan@gmail.com
pubmed:publicationType
Journal Article
,
Case Reports