Hsi, Gloria

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