A polymorphism of the alpha1-antitrypsin
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Sally Chappell; Nedim Hadzic; Robert Stockley; Tamar Guetta-Baranes; Kevin Morga
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Article
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2007
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John Wiley and Sons
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English
⚖ 192 KB
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