Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency.
de la Salle
Henri
H
EFS-Alsace, INSERM U725, Strasbourg, France. henri.delasalle@efs-alsace.fr
Fricker
Dominique
D
Hanau
Daniel
D
Langguth
Daman
D
Hogan
Patrick
P
D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D007154:Immune System Diseases / Q000235:genetics*; D009154:Mutation
D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters; D006680:HLA Antigens; C071692:TAP2 protein, human