title: Image in cardiovascular medicine. Aortic xanthomatosis with coronary ostial occlusion in a child homozygous for a nonsense mutation in ABCG8.
authors.affiliation: Robarts Research Institute, London, Ontario, Canada.
authors.forename: David
authors.initials: D
authors.lastname: Mymin
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.forename: Jiri
authors.initials: J
authors.lastname: Frohlich
authors.forename: Robert A
authors.initials: RA
authors.lastname: Hegele
mesh_terms: D000071019:ATP Binding Cassette Transporter, Subfamily G, Member 8; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D001011:Aorta / Q000473:pathology; D001018:Aortic Diseases / Q000235:genetics* / Q000473:pathology*; D001021:Aortic Valve / Q000473:pathology; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics; D003327:Coronary Disease / Q000473:pathology*; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006323:Heart Arrest / Q000209:etiology; D006720:Homozygote; D006801:Humans; D008074:Lipoproteins / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000209:etiology; D014973:Xanthomatosis / Q000235:genetics* / Q000473:pathology*
chemical_list: C416946:ABCG8 protein, human; D000071019:ATP Binding Cassette Transporter, Subfamily G, Member 8; D018528:ATP-Binding Cassette Transporters; D018389:Codon, Nonsense; D008074:Lipoproteins