Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. [electronic resource]
Producer: 20050705Description: 289-91 p. digitalISSN:- 1552-4825
- Amino Acid Sequence
- Base Sequence
- Cystathionine -- urine
- Cystathionine gamma-Lyase -- genetics
- DNA -- chemistry
- DNA Mutational Analysis
- DNA, Mitochondrial -- genetics
- Hepatolenticular Degeneration -- enzymology
- Humans
- Infant
- Mitochondrial Diseases -- enzymology
- Mutation
- Phosphotransferases (Alcohol Group Acceptor) -- genetics
- Siblings
- Syndrome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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