Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system. [electronic resource]
- Human mutation Apr 2008
- 491-501 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.20674 doi
Adenosine Triphosphatases--chemistry Adenosine Triphosphate--metabolism Binding Sites--genetics Cation Transport Proteins--chemistry Ceruloplasmin--genetics Copper--metabolism Copper Transport Proteins Copper-Transporting ATPases Genetic Complementation Test Genetic Variation Hepatolenticular Degeneration--enzymology Humans Ion Transport Models, Biological Models, Molecular Mutation, Missense Phenotype Protein Conformation Protein Structure, Tertiary Recombinant Proteins--chemistry Saccharomyces cerevisiae--genetics Saccharomyces cerevisiae Proteins--genetics