Image in cardiovascular medicine. Aortic xanthomatosis with coronary ostial occlusion in a child homozygous for a nonsense mutation in ABCG8

Circulation. 2003 Feb 11;107(5):791. doi: 10.1161/01.cir.0000050545.21826.ad.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily G, Member 8
  • ATP-Binding Cassette Transporters / genetics*
  • Aorta / pathology
  • Aortic Diseases / genetics*
  • Aortic Diseases / pathology*
  • Aortic Valve / pathology
  • Child, Preschool
  • Codon, Nonsense / genetics
  • Coronary Disease / pathology*
  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Heart Arrest / etiology
  • Homozygote
  • Humans
  • Lipoproteins / genetics*
  • Respiratory Insufficiency / etiology
  • Xanthomatosis / genetics*
  • Xanthomatosis / pathology*

Substances

  • ABCG8 protein, human
  • ATP Binding Cassette Transporter, Subfamily G, Member 8
  • ATP-Binding Cassette Transporters
  • Codon, Nonsense
  • Lipoproteins