Article
Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.
Proceedings of the National Academy of Sciences of the United States of America - 1 Dec 1990
Walker D C, McCloskey D A, Simard L R, McInnes R R
Abstract excerpt
Argininosuccinic acid lyase (ASAL) deficiency is a clinically heterogeneous autosomal recessive urea cycle disorder. We previously established by complementation analysis that 28 ASAL-deficient patients have heterogeneous mutations in a single gene. To prove that the ASAL structural gene is the a...
Topics
- Argininosuccinate Lyase
- Argininosuccinic Aciduria
- Base Sequence
- Cells, Cultured
- DNA
- Exons
- Fibroblasts
- Genetic Vectors
- Humans
- Lymphocytes
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Oligonucleotide Probes
- Polymerase Chain Reaction
- RNA Splicing