Article
Mutations in the adrenoleukodystrophy gene.
Human mutation - 1 Jan 1997
Dodd A, Rowland S A, Hawkes S L, Kennedy M A, Love D R
Abstract excerpt
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 i...
Topics
- ATP Binding Cassette Transporter, Subfamily D, Member 1
- ATP-Binding Cassette Transporters
- Adrenoleukodystrophy
- Amino Acid Sequence
- Base Sequence
- Frameshift Mutation
- Genotype
- Humans
- Membrane Proteins
- Mutation
- Phenotype
- Point Mutation
- Sequence Deletion