Article
Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection.
Human mutation - 1 Jan 1996
Braun A, Kammerer S, Ambach H, Roscher A A
Abstract excerpt
The gene for the most common peroxisomal disorder, X-linked adrenoleukodystrophy (X-ALD, McKusick #300100), encodes a peroxisomal membrane transporter protein (ALDP), and comprises 10 exons spanning approximately 21 kb. So far, however, the mutation analysis at the genomic level was handicapped b...
Topics
- ATP Binding Cassette Transporter, Subfamily D, Member 1
- ATP-Binding Cassette Transporters
- Adrenoleukodystrophy
- Base Sequence
- Cloning, Molecular
- DNA Primers
- Exons
- Humans
- Membrane Proteins
- Molecular Sequence Data
- Mutation