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Structural and functional characterization of the abnormal Z α1-antitrypsin isolated from human liver

✍ Scribed by I.C. Bathurst; J. Travis; P.M. George; R.W. Carrell


Book ID
115916270
Publisher
Elsevier Science
Year
1984
Tongue
English
Weight
752 KB
Volume
177
Category
Article
ISSN
0014-5793

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Alpha-1-antitrypsin (alpha1AT) deficiency in its most common form is caused by homozygosity for the alpha1AT mutant Z gene. This gene encodes a mutant Z secretory protein, primarily synthesized in the liver, that assumes an abnormal conformation and accumulates within hepatocytes causing liver cell