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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1998-8-25
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pubmed:abstractText |
To evaluate the frequency of the common Finnish and Norwegian mutations in the low density lipoprotein (LDL) receptor gene in Swedish patients with familial hypercholesterolaemia (FH), and to start screening for other mutations in these patients. In contrast to the situation in Norway and Finland, where the frequency of common mutations causing the disease has been determined, very little about the mutation spectrum is known in Sweden.
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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 |
Jul
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pubmed:issn |
0954-6820
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
244
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
19-25
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:9698020-Adult,
pubmed-meshheading:9698020-Aged,
pubmed-meshheading:9698020-Exons,
pubmed-meshheading:9698020-Female,
pubmed-meshheading:9698020-Finland,
pubmed-meshheading:9698020-Gene Frequency,
pubmed-meshheading:9698020-Humans,
pubmed-meshheading:9698020-Hyperlipoproteinemia Type II,
pubmed-meshheading:9698020-Male,
pubmed-meshheading:9698020-Middle Aged,
pubmed-meshheading:9698020-Mutation,
pubmed-meshheading:9698020-Norway,
pubmed-meshheading:9698020-Polymerase Chain Reaction,
pubmed-meshheading:9698020-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:9698020-Receptors, LDL,
pubmed-meshheading:9698020-Sweden
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pubmed:year |
1998
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pubmed:articleTitle |
Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolaemia.
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pubmed:affiliation |
Department of Medical Laboratory Sciences and Technology, Karolinska Institute at Huddinge University Hospital, Stockholm, Sweden.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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