A Q136Stop mutation in the ARH gene causing autosomal recessive hypercholesterolaemia with severely delayed LDL catabolism

J Intern Med. 2003 May;253(5):582-3. doi: 10.1046/j.1365-2796.2003.01139.x.
No abstract available

Publication types

  • Letter

MeSH terms

  • Homozygote
  • Humans
  • Hypercholesterolemia / genetics
  • Hypercholesterolemia / metabolism*
  • Lipoproteins, LDL / metabolism*
  • Mutation / genetics*

Substances

  • Lipoproteins, LDL