title: A novel mutation M-21V in exon 1 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: D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005787:Gene Frequency; D005819:Genetic Markers; D014644:Genetic Variation; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D011973:Receptors, LDL