title: A Q136Stop mutation in the ARH gene causing autosomal recessive hypercholesterolaemia with severely delayed LDL catabolism.
authors.forename: U J F
authors.initials: UJ
authors.lastname: Tietge
authors.forename: J
authors.initials: J
authors.lastname: Genschel
authors.forename: H H-J
authors.initials: HH
authors.lastname: Schmidt
mesh_terms: D006720:Homozygote; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics / Q000378:metabolism*; D008077:Lipoproteins, LDL / Q000378:metabolism*; D009154:Mutation / Q000235:genetics*
chemical_list: D008077:Lipoproteins, LDL