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Alpha-1-Antitrypsin Deficiency: A New Clinical Entity in CRS?

✍ Scribed by Kilty, S.; Mfuna, L.; Filali-Mouhim, A.; Lariviere, F.; Bossé, Y.; Desrosiers, M.


Book ID
119283068
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
42 KB
Volume
125
Category
Article
ISSN
1097-6825

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Alpha-1-antitrypsin deficiency: A new pa
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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