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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2004-1-13
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pubmed:abstractText |
Inherited hypercholesterolemias are common disorders characterised by elevated LDL-C levels and premature coronary heart disease. We have recently described a recessive form of hypercholesterolemia (autosomal recessive hypercholesterolemia, ARH) in which LDL catabolism is reduced because of a mutation in the gene coding for an adaptor protein that impairs LDL-receptor (LDL-R) activity in the liver. The aim of this study was to characterise in detail the phenotypes of subjects with homozygous and heterozygous ARH.
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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 |
Oct
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pubmed:issn |
0939-4753
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
13
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
278-86
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:14717060-Adolescent,
pubmed-meshheading:14717060-Adult,
pubmed-meshheading:14717060-Aged,
pubmed-meshheading:14717060-Aged, 80 and over,
pubmed-meshheading:14717060-Apolipoproteins E,
pubmed-meshheading:14717060-Cardiovascular Diseases,
pubmed-meshheading:14717060-Female,
pubmed-meshheading:14717060-Fibroblasts,
pubmed-meshheading:14717060-Heterozygote,
pubmed-meshheading:14717060-Homozygote,
pubmed-meshheading:14717060-Humans,
pubmed-meshheading:14717060-Hyperlipoproteinemia Type II,
pubmed-meshheading:14717060-Italy,
pubmed-meshheading:14717060-Lipids,
pubmed-meshheading:14717060-Lipoproteins,
pubmed-meshheading:14717060-Lipoproteins, LDL,
pubmed-meshheading:14717060-Male,
pubmed-meshheading:14717060-Middle Aged,
pubmed-meshheading:14717060-Mutation,
pubmed-meshheading:14717060-Pedigree,
pubmed-meshheading:14717060-Phenotype,
pubmed-meshheading:14717060-Questionnaires,
pubmed-meshheading:14717060-Receptors, LDL
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pubmed:year |
2003
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pubmed:articleTitle |
Clinical and biochemical characterisation of patients with autosomal recessive hypercholesterolemia (ARH).
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pubmed:affiliation |
Second Department of Internal Medicine, University of Ferrara, Ferrara, Italy. flr@unife.it
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pubmed:publicationType |
Journal Article
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