A novel splice-site mutation in intron 7 causes more severe hypercholesterolemia than a combined FH-FDB defect.
deCampo
A
A
Department of Medicine, Diabetes and Metabolism, Karl-Franzens-University of Graz, 8036 Graz, Austria.
Schallmoser
K
K
Schmidt
H
H
Toplak
H
H
Kostner
G M
GM
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
D001055:Apolipoproteins B; D004274:DNA, Recombinant; D000960:Hypolipidemic Agents; D019821:Simvastatin