Article
Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.
Human genetics - 1 Oct 1995
Kobayashi K, Kakinoki H, Fukushige T, Shaheen N, Terazono H, Saheki T
Abstract excerpt
Citrullinemia is an autosomal recessive disorder caused by a genetic deficiency of argininosuccinate synthetase (ASS). So far 20 mutations in ASS mRNA have been identified in human classical citrullinemia, including 14 single base changes causing missense mutations in the coding sequence of the enzyme, 4 mutations associated with an absence of exons 5, 6, 7, or 13 in mRNA, 1 mutation with a deletion of the first...
Topics
- Amino Acid Metabolism, Inborn Errors
- Argininosuccinate Synthase
- Base Sequence
- Citrulline
- Humans
- Japan
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction