Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. [electronic resource]
Producer: 19990629Description: 151-8 p. digitalISSN:- 1061-4036
- Amino Acid Metabolism, Inborn Errors -- genetics
- Amino Acid Sequence
- Amino Acid Substitution
- Amino Acid Transport Systems, Basic
- Ammonia -- blood
- Animals
- Canada
- Carrier Proteins -- biosynthesis
- Chromosome Mapping
- Chromosomes, Human, Pair 13
- Citrulline -- metabolism
- Female
- France -- ethnology
- Genetic Carrier Screening
- Humans
- Karyotyping
- Male
- Membrane Transport Proteins
- Mice
- Mitochondria -- metabolism
- Mitochondrial Membrane Transport Proteins
- Molecular Sequence Data
- Neurospora crassa -- genetics
- Ornithine -- blood
- Point Mutation
- Saccharomyces cerevisiae -- genetics
- Sequence Alignment
- Sequence Deletion
- Sequence Homology, Amino Acid
- Skin -- metabolism
- Syndrome
- Transfection
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Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
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