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Idiopathic Hemochromotosis and Alpha-1-Antitrypsin Deficiency: Coexistence in a Family with Progressive Liver Disease in the Proband

✍ Scribed by Suri Anand; Robert R. Schade; Carlos Bendetti; Robert Kelly; Bruce S. Rabin; John Krause; Thomas E. Starzl; Shunzaburo Iwatsuki; David H. Van Thiel

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 584 KB
Volume: 3
Category: Article
ISSN: 0270-9139
DOI: 10.1002/hep.1840030515

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✍ David A. Rudnick; David H. Perlmutter 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 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