Camacho, J A

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. [electronic resource] - Nature genetics Jun 1999 - 151-8 p. digital

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

1061-4036

10.1038/9658 doi


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