Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. [electronic resource]
Producer: 19950309Description: 195-202 p. digitalISSN:- 1061-4036
- Adenosine Triphosphatases -- chemistry
- Adolescent
- Animals
- Base Sequence
- Carrier Proteins -- genetics
- Cation Transport Proteins
- Cells, Cultured
- Ceruloplasmin -- analysis
- Copper -- blood
- Copper-Transporting ATPases
- DNA Mutational Analysis
- Dihydroxyphenylalanine -- blood
- Ehlers-Danlos Syndrome -- blood
- Exons
- Female
- Fibroblasts -- metabolism
- Humans
- Male
- Menkes Kinky Hair Syndrome -- blood
- Methoxyhydroxyphenylglycol -- analogs & derivatives
- Mice
- Mice, Neurologic Mutants
- Molecular Sequence Data
- Occipital Bone -- abnormalities
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- RNA Splicing
- Recombinant Fusion Proteins
- Sequence Homology, Amino Acid
- Species Specificity
- Terminator Regions, Genetic
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Publication Type: Case Reports; Comparative Study; Journal Article
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