Article
Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene.
The Journal of clinical investigation - 1 Jul 1990
Haraguchi Y, Aparicio J M, Takiguchi M, Akaboshi I, Yoshino M, Mori M, Matsuda I
Abstract excerpt
Argininemia results from a deficiency of arginase (EC 3.5.3.1), the last enzyme of the urea cycle in the liver. We examined the molecular basis for argininemia by constructing a genomic library followed by cloning and DNA sequencing. Discrete mutations were found on two alleles from the patient,...
Topics
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Arginase
- Base Sequence
- Blotting, Southern
- Female
- Humans
- Hyperargininemia
- Molecular Sequence Data
- Mutation
- Oligonucleotides
- Pedigree
- Polymerase Chain Reaction