Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain. [electronic resource]
Producer: 20101116Description: 2529-34 p. digitalISSN:- 1552-4833
- Adenosine Triphosphatases -- genetics
- Amino Acid Substitution
- Biological Transport -- genetics
- Biopsy
- Blood-Brain Barrier
- Brain -- growth & development
- Cation Transport Proteins -- genetics
- Copper -- cerebrospinal fluid
- Copper-Transporting ATPases
- DNA -- blood
- Dihydroxyphenylalanine -- metabolism
- Ectoderm -- pathology
- Humans
- Infant
- Male
- Menkes Kinky Hair Syndrome -- genetics
- Methoxyhydroxyphenylglycol -- analogs & derivatives
- Mosaicism
- Mutation
- Mutation, Missense
- Reference Values
- Skin -- pathology
- beta 2-Microglobulin -- metabolism
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Publication Type: Journal Article; Research Support, N.I.H., Intramural
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