Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia

Atherosclerosis

Volumn 147, Issue 2, 1999, Pages 309-316

  Graham, Colin A ^a   McClean, Elizabeth ^a   Ward, Alana J M ^a   Beattie, E Diane ^a   Martin, Sonya ^a   O'Kane, Maurice ^b   Young, Ian S ^a   Nicholls, D Paul ^a  

^a ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

^b ALTNAGELVIN HOSPITAL   (United Kingdom)

Author keywords

DGGE; Familial hypercholesterolaemia; Genotype phenotype; Mutation screening

Indexed keywords

APOLIPOPROTEIN B100; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; FAMILIAL HYPERCHOLESTEROLEMIA; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCREENING; SOUTHERN BLOTTING;

ELECTROPHORESIS, AGAR GEL; FEMALE; GENETIC SCREENING; GENETICS, POPULATION; GENOTYPE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MASS SCREENING; PHENOTYPE; POINT MUTATION; PROMOTER REGIONS (GENETICS); SENSITIVITY AND SPECIFICITY;

EID: 0032759131     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(99)00201-4     Document Type: Article

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