Molecular genetic testing for familial hypercholesterolemia in the Netherlands: A stepwise screening strategy enhances the mutation detection rate

Genetic Testing

Volumn 10, Issue 2, 2006, Pages 77-84

  Lombardi, M Paola ^a,b   Redeker, E J W ^a   Van Gent, D H M ^a   Smeele, K L ^a   Weerdesteijn, R ^a   Mannens, M M A M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FAMILIAL HYPERCHOLESTEROLEMIA; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HUMAN; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; NETHERLANDS; POLYMERASE CHAIN REACTION; RECEPTOR GENE; RISK FACTOR;

ADOLESCENT; ADULT; APOLIPOPROTEINS B; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COMBINATORIAL CHEMISTRY TECHNIQUES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; MOLECULAR PROBE TECHNIQUES; NETHERLANDS; POINT MUTATION; RECEPTORS, LDL; SEQUENCE ANALYSIS, DNA; TRANSLOCATION, GENETIC;

EID: 33745624604     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2006.10.77     Document Type: Article

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