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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
8
|
pubmed:dateCreated |
1991-3-13
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pubmed:abstractText |
Familial defective apolipoprotein B-100 is a genetic disorder of apolipoprotein B-100 that causes moderate to severe hypercholesterolemia. A single amino acid mutation in apolipoprotein B diminishes the ability of low density lipoproteins to bind to the low density lipoprotein receptor. Low density lipoproteins accumulate in the plasma because their efficient receptor-mediated catabolism is disrupted. This mutation has been identified in the United States, Canada, and Europe and is estimated to occur at a frequency of approximately 1/500 in these populations. Thus, it appears that this newly described disorder may be a significant genetic cause of hypercholesterolemia in Western societies.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Aug
|
pubmed:issn |
0022-2275
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
31
|
pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1337-49
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:2280177-Apolipoprotein B-100,
pubmed-meshheading:2280177-Apolipoproteins B,
pubmed-meshheading:2280177-Female,
pubmed-meshheading:2280177-Genes,
pubmed-meshheading:2280177-Humans,
pubmed-meshheading:2280177-Hyperlipoproteinemia Type II,
pubmed-meshheading:2280177-Male,
pubmed-meshheading:2280177-Mutation,
pubmed-meshheading:2280177-Pedigree,
pubmed-meshheading:2280177-Restriction Mapping
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pubmed:year |
1990
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pubmed:articleTitle |
Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia.
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pubmed:affiliation |
Gladstone Foundation Laboratories for Cardiovascular Disease, University of California, San Francisco 94140-0608.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Review
|