title: Novel missense and frameshift mutations in the adrenoleukodystrophy gene.
authors.affiliation: Department of Medical Biochemistry, Shiga University of Medical Science, Otsu, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Ueyama
authors.forename: T
authors.initials: T
authors.lastname: Yamano
authors.forename: M
authors.initials: M
authors.lastname: Shimada
authors.forename: I
authors.initials: I
authors.lastname: Ohkubo
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D017931:DNA Primers; D005091:Exons; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D017931:DNA Primers; D008565:Membrane Proteins; D004247:DNA