Article
Mutations and DNA diagnoses of classical citrullinemia.
Human mutation - 1 Jan 1997
Kakinoki H, Kobayashi K, Terazono H, Nagata Y, Saheki T
Abstract excerpt
Classical citrullinemia is an autosomal recessive disease caused by a genetic deficiency of argininosuccinate synthetase (ASS). We have previously identified 20 mutations in ASS mRNA of human classical citrullinemia and already established the DNA diagnosis of seven mutations as follows. By South...
Topics
- Amino Acid Metabolism, Inborn Errors
- Argininosuccinate Synthase
- Asian People
- Blotting, Southern
- Citrulline
- DNA
- DNA Mutational Analysis
- DNA Restriction Enzymes
- Exons
- Female
- Genetic Testing
- Heterozygote
- Humans
- Infant
- Mutation
- Polymerase Chain Reaction
- Pregnancy
- RNA, Messenger