Article
Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.
American journal of human genetics - 1 Dec 1994
Kobayashi K, Shaheen N, Terazono H, Saheki T
Abstract excerpt
Citrullinemia is an autosomal recessive disease caused by a genetic deficiency of argininosuccinate synthetase. In order to characterize mutations in Japanese patients with classical citrullinemia, RNA isolated from 10 unrelated patients was reverse-transcribed, and cDNA amplified by PCR was clon...
Topics
- Adult
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Argininosuccinate Synthase
- Base Sequence
- Citrulline
- DNA, Complementary
- Female
- Humans
- Infant
- Infant, Newborn
- Japan
- Molecular Sequence Data
- Mutagenesis, Insertional
- Mutation
- RNA, Messenger