Genetics and kinetics of familial hypercholesterolemia, with the special focus on FH- Marburg p.W556R

Atherosclerosis Supplements

Volumn 10, Issue 5, 2009, Pages 5-11

  Soufi, Muhidien ^a   Kurt, Bilgen ^a   Schweer, Horst ^a   Sattler, Alexander M ^a   Klaus, Günter ^a   Zschocke, Johannes ^b   Schaefer, Juergen R ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b Department of Human Genetics ^*  (Austria)

Author keywords

Familial hypercholesterolemia; In vivo kinetics; Low density lipoprotein receptor defect

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN B; APOLIPOPROTEIN B100; APOLIPOPROTEIN E; ARGININE; DEUTERIUM; DEXTRAN SULFATE; EZETIMIBE; GENOMIC DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; INTERMEDIATE DENSITY LIPOPROTEIN; LEUCINE; LIPOPROTEIN A; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL; TRYPTOPHAN; VERY LOW DENSITY LIPOPROTEIN;

AMINO ACID SUBSTITUTION; APHERESIS; APOLIPOPROTEIN B 100 GENE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BOLUS INJECTION; CASE REPORT; CHILD; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL METABOLISM; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA SEQUENCE; DRUG WITHDRAWAL; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILIAL HYPERCHOLESTEROLEMIA MARBURG TYPE; FRACTIONAL CATABOLIC RATE; GENE; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; ISOTOPE LABELING; LOSS OF FUNCTION MUTATION; LOW DENSITY LIPOPROTEIN RECEPTOR GENE; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE REPEAT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; TREATMENT FAILURE; TREATMENT RESPONSE; TRIACYLGLYCEROL BLOOD LEVEL; TURKEY (REPUBLIC);

ADULT; APOLIPOPROTEINS; BIOLOGICAL MARKERS; CHILD, PRESCHOOL; CHOLESTEROL, HDL; CHOLESTEROL, LDL; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; KINETICS; MALE; MUTATION; PEDIGREE; PHENOTYPE; RECEPTORS, LDL; TRIGLYCERIDES; TWINS, MONOZYGOTIC;

EID: 72649099138     PISSN: 15675688     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1567-5688(09)71802-1     Document Type: Article

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