title: Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia.
authors.affiliation: TNO-PG, Gaubius Laboratory, Leiden, The Netherlands.
authors.forename: P
authors.initials: P
authors.lastname: Lombardi
authors.forename: S W
authors.initials: SW
authors.lastname: Kamerling
authors.forename: J C
authors.initials: JC
authors.lastname: Defesche
authors.forename: J J
authors.initials: JJ
authors.lastname: Kastelein
authors.forename: L M
authors.initials: LM
authors.lastname: Havekes
mesh_terms: D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005796:Genes; D008040:Genetic Linkage; D006579:Heterozygote; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011973:Receptors, LDL / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D011973:Receptors, LDL