TY  - GEN
AU  - Camacho,J A
AU  - Obie,C
AU  - Biery,B
AU  - Goodman,B K
AU  - Hu,C A
AU  - Almashanu,S
AU  - Steel,G
AU  - Casey,R
AU  - Lambert,M
AU  - Mitchell,G A
AU  - Valle,D
TI  - Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
SN  - 1061-4036
PY  - 1999///0629
KW  - Amino Acid Metabolism, Inborn Errors
KW  - genetics
KW  - Amino Acid Sequence
KW  - Amino Acid Substitution
KW  - Amino Acid Transport Systems, Basic
KW  - Ammonia
KW  - blood
KW  - Animals
KW  - Canada
KW  - Carrier Proteins
KW  - biosynthesis
KW  - Chromosome Mapping
KW  - Chromosomes, Human, Pair 13
KW  - Citrulline
KW  - metabolism
KW  - Female
KW  - France
KW  - ethnology
KW  - Genetic Carrier Screening
KW  - Humans
KW  - Karyotyping
KW  - Male
KW  - Membrane Transport Proteins
KW  - Mice
KW  - Mitochondria
KW  - Mitochondrial Membrane Transport Proteins
KW  - Molecular Sequence Data
KW  - Neurospora crassa
KW  - Ornithine
KW  - Point Mutation
KW  - Saccharomyces cerevisiae
KW  - Sequence Alignment
KW  - Sequence Deletion
KW  - Sequence Homology, Amino Acid
KW  - Skin
KW  - Syndrome
KW  - Transfection
N1  - Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1038/9658
ER  -