Article
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.
Nature genetics - 1 Dec 1993
Tanzi R E, Petrukhin K, Chernov I, Pellequer J L, Wasco W, Ross B, Romano D M, Parano E, Pavone L, Brzustowicz L M
Abstract excerpt
Wilson disease (WD) is an autosomal recessive disorder characterized by the toxic accumulation of copper in a number of organs, particularly the liver and brain. As shown in the accompanying paper, linkage disequilibrium & haplotype analysis confirmed the disease locus to a single marker interval...
Topics
- Adenosine Triphosphatases
- Amino Acid Sequence
- Base Sequence
- Cation Transport Proteins
- Copper
- Copper-Transporting ATPases
- Gene Expression
- Haplotypes
- Hepatolenticular Degeneration
- Humans
- Linkage Disequilibrium