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Alpha-1 antitrypsin deficiency related liver disease: Is it worth a search in India?

โœ Scribed by Surender K. Yachha; Anshu Srivastava

Book ID
107697641
Publisher
Indian Academy of Pediatrics
Year
2010
Tongue
English
Weight
50 KB
Volume
47
Category
Article
ISSN
0019-6061

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โœ David A. Rudnick; David H. Perlmutter ๐Ÿ“‚ Article ๐Ÿ“… 2005 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 867 KB

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