Article
Menkes syndrome and animal models.
The American journal of clinical nutrition - 1 May 1998
Mercer J F
Abstract excerpt
Menkes syndrome is an X-linked genetic copper deficiency that is usually fatal in early childhood. Milder variants exist, including occipital horn syndrome, which is primarily a connective tissue disorder. Mutations of the mottled locus in mice produce a wide range of copper-deficient phenotypes...
Topics
- Adenosine Triphosphatases
- Animals
- Carrier Proteins
- Cation Transport Proteins
- Copper
- Copper-Transporting ATPases
- Disease Models, Animal
- Humans
- Menkes Kinky Hair Syndrome
- Mice
- Mice, Mutant Strains
- Molecular Biology
- Mutation
- Phenotype
- Recombinant Fusion Proteins