title: Novel human pathological mutations. Gene symbol: LDLR. Disease: hypercholesterolemia.
authors.affiliation: Cardiovascular Genetics/Clinical Biochemistry and Immunology, Mayo Clinic, Rochester, MN 55902, USA. snyder.katrina@mayo.edu
authors.forename: M S Katrina
authors.initials: MS
authors.lastname: Kotzer
authors.forename: Linnea
authors.initials: L
authors.lastname: Baudhuin
mesh_terms: D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D003062:Codon; D009711:Nucleotides; D011973:Receptors, LDL