Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X.
Genschel
J
J
Campus Charité Mitte, Med. Klinik m.S. Gastroenterologie, Hepatologie und Endokrinologie, Berlin, Germany. janine.genschel@charite.de
Thomas
H P
HP
Kassner
U
U
Lochs
H
H
Steinhagen-Thiessen
E
E
Schmidt
H H
HH
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*
D018389:Codon, Nonsense; D011973:Receptors, LDL