title: X-linked adrenoleukodystrophy with partial deletion of ALD due to fusion with the neighbor gene, PLXNB3.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Matsumoto
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Watanabe
authors.forename: Gaku
authors.initials: G
authors.lastname: Yamanaka
authors.forename: Shingo
authors.initials: S
authors.lastname: Oana
authors.forename: Masaaki
authors.initials: M
authors.lastname: Ogiwara
authors.forename: Akinori
authors.initials: A
authors.lastname: Hoshika
authors.forename: Noriko
authors.initials: N
authors.lastname: Sasaki
authors.forename: Harumi
authors.initials: H
authors.lastname: Miyahara
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
mesh_terms: 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
chemical_list: 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