Heterozygous familial hypercholesterolemia: a new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia.
Widhalm
K
K
Dept. of Pediatrics, University of Vienna, Austria.
Iro
C
C
Lindemayr
A
A
Schmidt
H
H
Kostner
G
G
D001161:Arteriosclerosis / Q000235:genetics; D002888:Chromosomes, Human, Pair 19; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011973:Receptors, LDL / Q000235:genetics*; D017211:Treatment Failure
D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D011973:Receptors, LDL