X-linked adrenoleukodystrophy with partial deletion of ALD due to fusion with the neighbor gene, PLXNB3.
Matsumoto
Tadashi
T
Miyake
Noriko
N
Watanabe
Yoshiaki
Y
Yamanaka
Gaku
G
Oana
Shingo
S
Ogiwara
Masaaki
M
Hoshika
Akinori
A
Sasaki
Noriko
N
Miyahara
Harumi
H
Niikawa
Norio
N
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics*; D001483:Base Sequence; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D017353:Gene Deletion; D050939:Gene Fusion; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D019006:Neural Cell Adhesion Molecules / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011859:Radiography
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D009419:Nerve Tissue Proteins; D019006:Neural Cell Adhesion Molecules; C496426:PLXNB3 protein, human