Article
Mutation analysis of Wilson disease in Taiwan and description of six new mutations.
Human mutation - 1 Jan 1998
Tsai C H, Tsai F J, Wu J Y, Chang J G, Lee C C, Lin S P, Yang C F, Jong Y J, Lo M C
Abstract excerpt
Wilson disease is an autosomal recessive disorder of copper metabolism. Mutation screening in Wilson disease has led to the detection of at least 89 disease-specific mutations. Some mutations appear to be population specific, while others are common to many populations. In this study, 38 Taiwanes...
Topics
- Alleles
- Alternative Splicing
- Amino Acid Substitution
- Arginine
- Aspartic Acid
- DNA
- DNA Mutational Analysis
- Glutamine
- Glycine
- Hepatolenticular Degeneration
- Humans
- Leucine
- Leukocytes
- Mutation
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational
- Proline
- Taiwan