title: Heterozygous familial hypercholesterolemia: a new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia.
authors.affiliation: Dept. of Pediatrics, University of Vienna, Austria.
authors.forename: K
authors.initials: K
authors.lastname: Widhalm
authors.forename: C
authors.initials: C
authors.lastname: Iro
authors.forename: A
authors.initials: A
authors.lastname: Lindemayr
authors.forename: H
authors.initials: H
authors.lastname: Schmidt
authors.forename: G
authors.initials: G
authors.lastname: Kostner
mesh_terms: 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
chemical_list: D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D011973:Receptors, LDL