title: Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X.
authors: Campus Charité Mitte, Med. Klinik m.S. Gastroenterologie, Hepatologie und Endokrinologie, Berlin, Germany. janine.genschel@charite.de
authors: J
authors: J
authors: Genschel
authors: H P
authors: HP
authors: Thomas
authors: U
authors: U
authors: Kassner
authors: H
authors: H
authors: Lochs
authors: E
authors: E
authors: Steinhagen-Thiessen
authors: H H
authors: HH
authors: Schmidt
mesh_terms: D000368:Aged; D018389:Codon, Nonsense / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D011973:Receptors, LDL / Q000737:chemistry / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D011973:Receptors, LDL