title: A novel splice-site mutation in intron 7 causes more severe hypercholesterolemia than a combined FH-FDB defect.
authors.affiliation: Department of Medicine, Diabetes and Metabolism, Karl-Franzens-University of Graz, 8036 Graz, Austria.
authors.forename: A
authors.initials: A
authors.lastname: deCampo
authors.forename: K
authors.initials: K
authors.lastname: Schallmoser
authors.forename: H
authors.initials: H
authors.lastname: Schmidt
authors.forename: H
authors.initials: H
authors.lastname: Toplak
authors.forename: G M
authors.initials: GM
authors.lastname: Kostner
mesh_terms: D000328:Adult; D000368:Aged; D001055:Apolipoproteins B / Q000235:genetics*; D004274:DNA, Recombinant; D004351:Drug Resistance; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000188:drug therapy / Q000235:genetics*; D000960:Hypolipidemic Agents / Q000627:therapeutic use; D007438:Introns / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D019821:Simvastatin / Q000627:therapeutic use
chemical_list: D001055:Apolipoproteins B; D004274:DNA, Recombinant; D000960:Hypolipidemic Agents; D019821:Simvastatin