Image in cardiovascular medicine. Aortic xanthomatosis with coronary ostial occlusion in a child homozygous for a nonsense mutation in ABCG8.
Mymin
David
D
Robarts Research Institute, London, Ontario, Canada.
Wang
Jian
J
Frohlich
Jiri
J
Hegele
Robert A
RA
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*
C416946:ABCG8 protein, human; D000071019:ATP Binding Cassette Transporter, Subfamily G, Member 8; D018528:ATP-Binding Cassette Transporters; D018389:Codon, Nonsense; D008074:Lipoproteins