Article
Haplotypes and mutations in Wilson disease.
American journal of human genetics - 1 Jun 1995
Thomas G R, Roberts E A, Walshe J M, Cox D W
Abstract excerpt
Wilson disease is a disorder of copper transport, resulting in neurological and hepatic damage due to copper toxicity. We have recently identified > 20 mutations in the copper-transporting ATPase defective in this disease. Given the difficulties of searching for mutations in a gene spanning > 80...
Topics
- Adenosine Triphosphatases
- Adolescent
- Adult
- Base Sequence
- Canada
- Cation Transport Proteins
- Child
- Child, Preschool
- Copper
- Copper-Transporting ATPases
- Female
- Genetic Markers
- Haplotypes
- Hepatolenticular Degeneration
- Humans
- Male
- Molecular Sequence Data
- Mutation