TY  - GEN
AU  - Donsante,Anthony
AU  - Tang,Jingrong
AU  - Godwin,Sarah C
AU  - Holmes,Courtney S
AU  - Goldstein,David S
AU  - Bassuk,Alexander
AU  - Kaler,Stephen G
TI  - Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome
SN  - 1468-6244
PY  - 2007///0914
KW  - Adenosine Triphosphatases
KW  - genetics
KW  - Cation Transport Proteins
KW  - Cell Line
KW  - Cerebellum
KW  - abnormalities
KW  - Child, Preschool
KW  - Copper
KW  - metabolism
KW  - Copper-Transporting ATPases
KW  - DNA Mutational Analysis
KW  - Family
KW  - Gene Expression Regulation
KW  - Genetic Complementation Test
KW  - Genetic Variation
KW  - Humans
KW  - Infant
KW  - Male
KW  - Menkes Kinky Hair Syndrome
KW  - Occipital Lobe
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Siblings
KW  - Transcription, Genetic
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural
UR  - https://doi.org/10.1136/jmg.2007.050013
ER  -