Article
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
American journal of human genetics - 1 Dec 1998
Forbes J R, Cox D W
Abstract excerpt
Wilson disease is an autosomal recessive disorder of copper transport that causes hepatic and/or neurological disease resulting from copper accumulation in the liver and brain. The protein defective in this disorder is a putative copper-transporting P-type ATPase, ATP7B. More than 100 mutations h...
Topics
- Adenosine Triphosphatases
- Apoenzymes
- Biological Transport
- Carrier Proteins
- Cation Transport Proteins
- Cell Division
- Ceruloplasmin
- Copper
- Copper Transport Proteins
- Copper-Transporting ATPases
- Cysteine
- DNA, Complementary
- Fungal Proteins
- Genetic Complementation Test
- Hepatolenticular Degeneration
- Humans
- Immune Sera
- Iron