Molecular basis of alpha-1-antitrypsin deficiency
M Brantly, T Nukiwa, RG Crystal - The American journal of medicine, 1988 - Elsevier
Alpha-1-antitrypsin (A1AT) deficiency is an autosomal hereditary disorder associated with a
major reduction in serum A1AT levels. Clinically, A1AT deficiency is associated with
emphysema in adults and, less commonly, liver disease in neonates. A1AT is a 52-kDa, 394-
amino acid, single-chain glycoprotein normally present in serum at 150 to 350 mg/dl. The
A1AT gene, composed of seven exons dispersed over 12 kb of chromosomal segment
14q31-32.3, is expressed in heptocytes and mononuclear phagocytes. The A1AT protein, a …
major reduction in serum A1AT levels. Clinically, A1AT deficiency is associated with
emphysema in adults and, less commonly, liver disease in neonates. A1AT is a 52-kDa, 394-
amino acid, single-chain glycoprotein normally present in serum at 150 to 350 mg/dl. The
A1AT gene, composed of seven exons dispersed over 12 kb of chromosomal segment
14q31-32.3, is expressed in heptocytes and mononuclear phagocytes. The A1AT protein, a …