Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. [electronic resource]
Producer: 20000901Description: 1501-13 p. digitalISSN:- 0964-6906
- Adenylosuccinate Lyase -- biosynthesis
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Child
- Child, Preschool
- Cloning, Molecular
- DNA, Complementary -- metabolism
- Escherichia coli -- metabolism
- Exons
- Female
- Fibroblasts -- metabolism
- Genotype
- Humans
- Infant
- Kinetics
- Male
- Molecular Sequence Data
- Mutation
- Phenotype
- Promoter Regions, Genetic
- Protein Isoforms
- Sequence Analysis, DNA
- Temperature
- Tissue Distribution
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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