X-linked Menkes disease: first documented report of germ-line mosaicism. [electronic resource]
Producer: 20050401Description: 286-91 p. digitalISSN:- 1090-6576
- Adenosine Triphosphatases -- genetics
- Biological Transport -- genetics
- Cation Transport Proteins -- genetics
- Cells, Cultured
- Copper -- metabolism
- Copper-Transporting ATPases
- Female
- Fibroblasts -- physiology
- Gene Deletion
- Germ-Line Mutation
- Haplotypes -- genetics
- Humans
- Male
- Menkes Kinky Hair Syndrome -- genetics
- Mosaicism
- Pedigree
- Recombinant Fusion Proteins -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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