732 Alpha-1-antitrypsin levels and genetic variation of the alpha-1-antitrypsin gene in Peyronie's disease
β Scribed by A. Hauptmann; E. Hauck; A. Bohnert; S. Haag; W. Weidner; G. Bein; H. Hackstein
- Book ID
- 118645936
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 217 KB
- Volume
- 3
- Category
- Article
- ISSN
- 1569-9056
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Liver disease in alpha-1-antitrypsin (alpha1AT) deficiency is caused by a gain-of-toxic function mechanism engendered by the accumulation of a mutant glycoprotein in the endoplasmic reticulum (ER). The extraordinary degree of variation in phenotypical expression of this liver disease is believed to
The highly polymorphic human alpha-1-antitrypsin (AAT) gene, more recently named SERPINA1, codes for the most abundant circulating plasma serine protease inhibitor, protease inhibitor 1 (PI). Most studies determining AAT haplotype frequencies have been restricted first by the limited accuracy of the