Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. [electronic resource]
Producer: 20070914Description: 492-7 p. digitalISSN:- 1468-6244
- 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
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural
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