Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant? [electronic resource]
- American journal of human genetics Dec 1998
- 1663-74 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0002-9297
10.1086/302163 doi
Adenosine Triphosphatases--chemistry Apoenzymes--metabolism Biological Transport Carrier Proteins--chemistry Cation Transport Proteins Cell Division Ceruloplasmin--metabolism Copper--metabolism Copper Transport Proteins Copper-Transporting ATPases Cysteine--genetics DNA, Complementary--genetics Fungal Proteins--genetics Genetic Complementation Test Hepatolenticular Degeneration--enzymology Humans Immune Sera Iron--metabolism Mutagenesis, Site-Directed Mutation, Missense Phenotype Recombinant Fusion Proteins--immunology Saccharomyces cerevisiae--enzymology Saccharomyces cerevisiae Proteins Temperature