Article
Wilson disease: genetic basis of copper toxicity and natural history.
Seminars in liver disease - 1 Feb 1996
Schilsky M L
Abstract excerpt
The discovery that the gene for Wilson disease encodes a copper-transporting ATPase has greatly improved our understanding of the pathophysiology of this disorder and of copper metabolism in humans. The abundance of disease-specific mutations and their location at multiple sites across the genome...
Topics
- Adenosine Triphosphatases
- Carrier Proteins
- Cation Transport Proteins
- Chelating Agents
- Chelation Therapy
- Chromosome Mapping
- Copper
- Copper-Transporting ATPases
- Environment
- Genetic Therapy
- Genome, Human
- Hepatitis
- Hepatolenticular Degeneration
- Humans
- Liver Transplantation
- Molybdenum
- Mutation
- Penicillamine