Article
Mutational analysis of patients with X-linked adrenoleukodystrophy.
Human mutation - 1 Jan 1995
Kok F, Neumann S, Sarde C O, Zheng S, Wu K H, Wei H M, Bergin J, Watkins P A, Gould S, Sack G
Abstract excerpt
Adrenoleukodystrophy (ALD) is an X-linked neurodegenerative disorder characterized by elevated very long chain fatty acid (VLCFA) levels, reduced activity of peroxisomal VLCFA-CoA ligase, and variable phenotypic expression. A putative gene for ALD was recently identified and surprisingly encodes a protein (ALDP) that belongs to a family of transmembrane transporters regulated or activated by ATP (the ABC...
Topics
- ATP Binding Cassette Transporter, Subfamily D, Member 1
- ATP-Binding Cassette Transporters
- Adrenoleukodystrophy
- Base Sequence
- Blotting, Southern
- Chromosome Mapping
- DNA Mutational Analysis
- Genetic Linkage
- Humans
- Membrane Proteins