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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
1995-5-30
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pubmed:abstractText |
The genetic polymorphism of human apolipoprotein A-IV was investigated in Hungarian blood donors (n = 202) by isoelectric focusing (IEF) of plasma samples followed by immunoblotting. The frequency of apo A-IV alleles was f(A-IV1) = 0.95, f(A-IV2) = 0.039 and f(A-IV3) = 0.002. This frequency distribution is significantly different from other Caucasian populations (P < 0.05). The association of apo A-IV phenotypes with HDL-cholesterol concentration which was previously described for two other European populations was only of borderline significance (P = 0.08). Three previously undescribed apo A-IV variants, designated Budapest-1, Budapest-2 and Budapest-3, were detected by IEF. The mutant proteins are not associated with alterations in the lipid/lipoprotein concentrations in heterozygotes. DNA-sequencing revealed two point mutations (Arg285-->Cys and Thr347-->Ser) in exon 3 of apo A-IV-Budapest-1 and a Glu-->Lys substitution at position 24 in exon 2 of apo A-IV-Budapest-2.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:issn |
1059-7794
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
5
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
58-65
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:7728150-Adult,
pubmed-meshheading:7728150-Alleles,
pubmed-meshheading:7728150-Apolipoproteins A,
pubmed-meshheading:7728150-Base Sequence,
pubmed-meshheading:7728150-Blood Donors,
pubmed-meshheading:7728150-DNA,
pubmed-meshheading:7728150-Female,
pubmed-meshheading:7728150-Gene Frequency,
pubmed-meshheading:7728150-Genetic Variation,
pubmed-meshheading:7728150-Humans,
pubmed-meshheading:7728150-Hungary,
pubmed-meshheading:7728150-Lipids,
pubmed-meshheading:7728150-Male,
pubmed-meshheading:7728150-Middle Aged,
pubmed-meshheading:7728150-Molecular Sequence Data,
pubmed-meshheading:7728150-Point Mutation,
pubmed-meshheading:7728150-Polymerase Chain Reaction,
pubmed-meshheading:7728150-Polymorphism, Genetic
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pubmed:year |
1995
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pubmed:articleTitle |
Apolipoprotein A-IV polymorphism in the Hungarian population: gene frequencies, effect on lipid levels, and sequence of two new variants.
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pubmed:affiliation |
Institute for Medical Biology and Human Genetics, University of Innsbruck, Austria.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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