TY  - GEN
AU  - Poulsen,Lena
AU  - Møller,Lisbeth Birk
AU  - Plunkett,Katie
AU  - Belmont,John
AU  - Tümer,Zeynep
AU  - Horn,Nina
TI  - X-linked Menkes disease: first documented report of germ-line mosaicism
SN  - 1090-6576
PY  - 2005///0401
KW  - Adenosine Triphosphatases
KW  - genetics
KW  - Biological Transport
KW  - Cation Transport Proteins
KW  - Cells, Cultured
KW  - Copper
KW  - metabolism
KW  - Copper-Transporting ATPases
KW  - Female
KW  - Fibroblasts
KW  - physiology
KW  - Gene Deletion
KW  - Germ-Line Mutation
KW  - Haplotypes
KW  - Humans
KW  - Male
KW  - Menkes Kinky Hair Syndrome
KW  - Mosaicism
KW  - Pedigree
KW  - Recombinant Fusion Proteins
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1089/gte.2004.8.286
ER  -