Poulsen, Lena
X-linked Menkes disease: first documented report of germ-line mosaicism. [electronic resource]
- Genetic testing 2004
- 286-91 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1090-6576
10.1089/gte.2004.8.286 doi
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