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Alpha1-antitrypsin gene polymorphism related to respiratory system disease

✍ Scribed by Buraczynska, M. ;Schött, D. ;Hanzlik, A. J. ;Höltmann, B. ;Ulmer, W. T.


Publisher
Springer-Verlag
Year
1987
Tongue
English
Weight
433 KB
Volume
65
Category
Article
ISSN
1432-1440

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A polymorphism of the alpha1-antitrypsin
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Alpha(1)-antitrypsin deficiency (AATD) due to homozygosity of the protease inhibitor (Pi) Z variant predisposes to childhood liver disease and pulmonary emphysema. About 10% of all neonates with AATD develop liver disease, and about 3% overall progress to severe disease. AATD is a principal genetic