title: Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene.
abstract: DNA sequencing of enzymatically-amplified exons of the low-density lipoprotein receptor gene from several individuals revealed a polymorphism in exon 10 of the gene. The codon for arginine 450 was converted from AGG to AGA in some alleles.
authors.affiliation: Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa.
authors.forename: L
authors.initials: L
authors.lastname: Warnich
authors.forename: M J
authors.initials: MJ
authors.lastname: Kotze
authors.forename: E
authors.initials: E
authors.lastname: Langenhoven
authors.forename: A E
authors.initials: AE
authors.lastname: Retief
mesh_terms: D000483:Alleles; D001120:Arginine / Q000235:genetics; D001483:Base Sequence; D005091:Exons / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009838:Oligodeoxyribonucleotides / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D009838:Oligodeoxyribonucleotides; D011973:Receptors, LDL; D001120:Arginine