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Population Genetic Screening for Alpha1-Antitrypsin Deficiency in a High-Prevalence Area

✍ Scribed by Corda, Luciano; Medicina, Daniela; La Piana, Giuseppe Emanuele; Bertella, Enrica; Moretti, Giovanni; Bianchi, Luca; Pinelli, Valentina; Savoldi, Gianfranco; Baiardi, Paola; Facchetti, Fabio; Gatta, Nuccia; Annesi-Maesano, Isabella; Balbi, Bruno

Book ID
119985444
Publisher
S. Karger AG
Year
2011
Tongue
English
Weight
260 KB
Volume
82
Category
Article
ISSN
0025-7931

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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