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The genetic study of primary biliary cirrhosis: Great hope, some caution

โœ Scribed by Gideon M. Hirschfield; E. J. Heathcote


Book ID
107538386
Publisher
Springer
Year
2008
Tongue
English
Weight
186 KB
Volume
10
Category
Article
ISSN
1522-8037

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The genetics of primary biliary cirrhosi
โœ David E. J. Jones; George Mells ๐Ÿ“‚ Article ๐Ÿ“… 2011 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 237 KB

In the classical form of alpha1-antitrypsin (AT) deficiency, a point mutation in AT alters the folding of a liver-derived secretory glycoprotein and renders it aggregation-prone. In addition to decreased serum concentrations of AT, the disorder is characterized by accumulation of the mutant alpha1-a