Alpha1-antitrypsin: Structure, function and molecular biology of the gene
β Scribed by N. Kalsheker
- Book ID
- 112482980
- Publisher
- Springer
- Year
- 1989
- Tongue
- English
- Weight
- 546 KB
- Volume
- 9
- Category
- Article
- ISSN
- 0144-8463
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Alpha1-antitrypsin (Ξ± 1 AT) deficiency is a hereditary disorder associated with reduced Ξ± 1 AT serum level, predisposing adults to pulmonary emphysema. Among the known mutations of the Ξ± 1 AT gene (SERPINA1) causing Ξ± 1 AT deficiency, a few alleles, particularly the Z allele, may also predispose adu
By sequence analysis of the complete protein-coding region of the human alpha-1-antitrypsin gene using polymerase chain reaction techniques, we have characterised one of the normal variants, M3. We have identified a single point mutation between M1 Val213 and M3 at codon position 376 which is a GAA(