title: Mutations in the adrenoleukodystrophy gene.
abstract: Adrenoleukodystrophy (ALD) is a peroxisomal disorder that commonly manifests as demyelination of the central nervous system (CNS). The isolation of the ALD gene by positional cloning has led to the identification of a variety of mutations in the ALD gene. One hundred and ten mutations have been identified to date, of which approximately 50% are missense mutations. While rapid DNA-based diagnoses of ALD is now possible, there appears to be no simple correlation between genotype and phenotype.
authors.affiliation: School of Biological Sciences, University of Auckland, New Zealand.
authors.forename: A
authors.initials: A
authors.lastname: Dodd
authors.forename: S A
authors.initials: SA
authors.lastname: Rowland
authors.forename: S L
authors.initials: SL
authors.lastname: Hawkes
authors.forename: M A
authors.initials: MA
authors.lastname: Kennedy
authors.forename: D R
authors.initials: DR
authors.lastname: Love
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000326:Adrenoleukodystrophy / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D016368:Frameshift Mutation; D005838:Genotype; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D017354:Point Mutation; D017384:Sequence Deletion
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D008565:Membrane Proteins