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