Article
Alpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons.
American journal of human genetics - 1 Sept 1990
Takahashi H, Crystal R G
Abstract excerpt
alpha 1-Antitrypsin (alpha 1AT) deficiency, a common hereditary disorder responsible for emphysema in Caucasians of northern European descent, is caused by single base substitutions, deletions, or additions in the seven exons (IA-IC and II-V), of the 12.2-kb alpha 1AT gene located on chromosome 14 at q31-32.3. Of the five known representatives of the "null" group of alpha 1AT-deficiency alleles (alpha 1AT genes...
Topics
- Alleles
- Base Sequence
- Blotting, Southern
- Chromosome Deletion
- Chromosomes, Human, Pair 14
- Cloning, Molecular
- Codon
- Exons
- Female
- Humans
- Karyotyping