A novel splice-site mutation in intron 7 causes more severe hypercholesterolemia than a combined FH-FDB defect

Atherosclerosis

Volumn 157, Issue 2, 2001, Pages 524-525

  DeCampo, Antonella ^a   Schallmoser, Katharina ^a   Schmidt, Helena ^a   Toplak, Hermann ^a   Kostner, Gerhard M ^a  

^a UNIVERSITY OF GRAZ   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; ATORVASTATIN; COLESTYRAMINE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; MEVINOLIN; SIMVASTATIN; TRIACYLGLYCEROL;

ADULT; ALLELE; ANGINA PECTORIS; ARTICLE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; HEART INFARCTION; HUMAN; INTRON; MALE; PRIORITY JOURNAL;

ADULT; AGED; ANTILIPEMIC AGENTS; APOLIPOPROTEINS B; DNA, RECOMBINANT; DRUG RESISTANCE; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; INTRONS; MALE; MIDDLE AGED; MUTATION; SIMVASTATIN;

EID: 0034907080     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(01)00535-4     Document Type: Article

References (2)

1. A third major locus for autosomal dominant hypercholesterolemia maps at 1p34.1-p32
2. Evaluation of a newly discovered LDL-receptor-mutation (exon 10, GAC > AAC, D471N, 'FH graz-1') in familial hypercholesterolemia - A family study