Article
Expression of PiM-and PiZ-mutated forms of the human alpha 1-antitrypsin gene in transfected monkey COS1 cells.
The Journal of biological chemistry - 25 Dec 1990
Davis E S, Harpaz N, Johnson E M
Abstract excerpt
The PiZ mutation of the gene coding for alpha 1-antitrypsin results in a serum deficiency of this protein leading to early onset emphysema and liver disease. The PiZ gene has a Z-specific point mutation in exon V together with a point mutation in exon III which is also present in some normal (PiM...
Topics
- Animals
- Base Sequence
- Cell Line
- Chlorocebus aethiops
- Genes
- Humans
- Immunoenzyme Techniques
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Nucleic Acid Hybridization
- Oligonucleotide Probes
- Plasmids
- Restriction Mapping
- Transcription, Genetic
- Transfection
- alpha 1-Antitrypsin