Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. [electronic resource]
Producer: 20120713Description: 457-66 p. digitalISSN:- 1537-6605
- Adolescent
- Adult
- Amino Acid Sequence
- Brain -- metabolism
- Cation Transport Proteins -- genetics
- Child
- Child, Preschool
- Chromosome Mapping -- methods
- Codon, Nonsense
- Female
- Genetic Predisposition to Disease
- Humans
- Liver -- metabolism
- Male
- Manganese -- metabolism
- Manganese Poisoning -- genetics
- Metabolic Diseases -- genetics
- Molecular Sequence Data
- Mutation, Missense
- Saccharomyces cerevisiae -- genetics
- Sequence Alignment
- Sequence Analysis, DNA
- Young Adult
- Zinc Transporter 8
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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