Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. [electronic resource]
Producer: 20071129Description: 673-88 p. digitalISSN:- 1468-6244
- Adenosine Triphosphatases -- chemistry
- Adenosine Triphosphate -- metabolism
- Animals
- Cation Transport Proteins -- chemistry
- Copper -- metabolism
- Copper-Transporting ATPases
- Disease Models, Animal
- Female
- Genotype
- Hepatolenticular Degeneration -- genetics
- Humans
- Male
- Menkes Kinky Hair Syndrome -- genetics
- Mice
- Mice, Mutant Strains
- Mutation, Missense
- Phenotype
- Protein Interaction Mapping
- Protein Structure, Tertiary
- Rats
- Rats, Inbred LEC
- Structure-Activity Relationship
- Zebrafish
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review
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