title: A novel V415A mutation in exon 9 of 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: J C
authors.initials: JC
authors.lastname: Defesche
authors.forename: S W
authors.initials: SW
authors.lastname: Kamerling
authors.forename: J J
authors.initials: JJ
authors.lastname: Kastelein
authors.forename: L M
authors.initials: LM
authors.lastname: Havekes
mesh_terms: D002874:Chromosome Mapping; D005091:Exons; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D011973:Receptors, LDL