Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant? [electronic resource]
Producer: 19990201Description: 1663-74 p. digitalISSN:- 0002-9297
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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