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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1-2
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pubmed:dateCreated |
2001-12-25
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pubmed:abstractText |
A case is presented of predisposing a patient's father with obligate heterozygous lipoprotein lipase (LPL) deficiency to mild hypertriglyceridemia in Japanese I-family members (n=8) with patient DI, who was a compound heterozygote for a novel missense mutation of G154V (GG(716)C-->GTC/Gly(154) Val) in exon 5 and a novel splice mutation (Int8/5'-dss/t(+2)c; a T-to-C transition in the invariant GT at position +2 of the 5' donor splice site (dss)) in intron 8 of the LPL gene.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0009-8981
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
316
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
179-85
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11750290-Adult,
pubmed-meshheading:11750290-Aged,
pubmed-meshheading:11750290-Child, Preschool,
pubmed-meshheading:11750290-Family Health,
pubmed-meshheading:11750290-Female,
pubmed-meshheading:11750290-Genetic Markers,
pubmed-meshheading:11750290-Heterozygote,
pubmed-meshheading:11750290-Humans,
pubmed-meshheading:11750290-Hyperinsulinism,
pubmed-meshheading:11750290-Hyperlipoproteinemia Type I,
pubmed-meshheading:11750290-Hypertriglyceridemia,
pubmed-meshheading:11750290-Infant,
pubmed-meshheading:11750290-Insulin Resistance,
pubmed-meshheading:11750290-Japan,
pubmed-meshheading:11750290-Lipoprotein Lipase,
pubmed-meshheading:11750290-Male,
pubmed-meshheading:11750290-Middle Aged,
pubmed-meshheading:11750290-Mutation,
pubmed-meshheading:11750290-Mutation, Missense,
pubmed-meshheading:11750290-Pedigree,
pubmed-meshheading:11750290-RNA Splice Sites
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pubmed:year |
2002
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pubmed:articleTitle |
A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency.
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pubmed:affiliation |
Department of Etiology and Pathophysiology, National Cardiovascular Center Research Institute, 5-7-1 Fujishirodai, Suita, Osaka 565-8565, Japan. yikeda@ri.ncvc.go.jp
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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