A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective.
Berger
J
J
Brain Research Institute, University of Vienna, Austria. johannes.berger@univie.ac.at
Korosec
T
T
Unterrainer
G
G
Molzer
B
B
D000074061:ATP Binding Cassette Transporter, Subfamily D; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000309:Adrenal Insufficiency / Q000235:genetics; D000326:Adrenoleukodystrophy / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D003545:Cysteine / Q000235:genetics; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics*; D011506:Proteins / Q000032:analysis* / Q000235:genetics*; D012694:Serine / Q000235:genetics
C115572:ABCD1 protein, human; C431694:ABCD2 protein, human; D000074061:ATP Binding Cassette Transporter, Subfamily D; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D011506:Proteins; D007532:Isoleucine; D012694:Serine; D001120:Arginine; D003545:Cysteine