Article
Immunohistochemical and genetic characterization of the M Cagliari alpha-1-antitrypsin molecule (M-like alpha-1-antitrypsin deficiency).
Laboratory investigation; a journal of technical methods and pathology - 1 Jan 1994
Sergi C, Consalez G G, Fabbretti G, Brisigotti M, Faa G, Costa V, Romeo G, Callea F
Abstract excerpt
BACKGROUND: Genetic alpha-1-antitrypsin (AAT) deficiency may be due to defective secretion, intracellular degradation, or lack of synthesis. Defective secretion results in hepatocytic storage and liver disease. These two events occur only with the common deficiency variant, Z AAT, and with a few...
Topics
- Adult
- DNA
- Enzyme-Linked Immunosorbent Assay
- Exons
- Female
- Genetic Variation
- Humans
- Immunohistochemistry
- Liver
- Mutation
- Sequence Analysis, DNA
- alpha 1-Antitrypsin