Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. [electronic resource]
Producer: 20000531Description: 454-62 p. digitalISSN:- 1059-7794
- Adenosine Triphosphatases -- genetics
- Amino Acid Substitution
- Asian People
- Carrier Proteins -- genetics
- Cation Transport Proteins
- Ceruloplasmin -- analysis
- Copper -- blood
- Copper-Transporting ATPases
- DNA Mutational Analysis
- DNA Transposable Elements
- Female
- Frameshift Mutation
- Genotype
- Geography
- Hepatolenticular Degeneration -- blood
- Humans
- Japan
- Male
- Mutation
- Mutation, Missense
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Sequence Deletion
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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