Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.

Donsante, Anthony

Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. [electronic resource] - Journal of medical genetics Aug 2007 - 492-7 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural

1468-6244

10.1136/jmg.2007.050013 doi


Adenosine Triphosphatases--genetics
Cation Transport Proteins--genetics
Cell Line
Cerebellum--abnormalities
Child, Preschool
Copper--metabolism
Copper-Transporting ATPases
DNA Mutational Analysis
Family
Gene Expression Regulation
Genetic Complementation Test
Genetic Variation
Humans
Infant
Male
Menkes Kinky Hair Syndrome--genetics
Occipital Lobe--abnormalities
Reverse Transcriptase Polymerase Chain Reaction
Siblings
Transcription, Genetic