Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?

Forbes, J R

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