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The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency

✍ Scribed by Alice M Wood; Matthew J Simmonds; Darren L Bayley; Paul R Newby; Stephen C Gough; Robert A Stockley


Book ID
119894043
Publisher
BioMed Central
Year
2008
Tongue
English
Weight
557 KB
Volume
9
Category
Article
ISSN
1465-9921

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Alpha-1 antitrypsin (AAT; HUGO symbol, SERPINA1) is one of the major serine protease inhibitors (serpins) in human plasma. Deficiency of AAT is a recognised risk factor for chronic obstructive pulmonary disease (COPD), attributed to uninhibited neutrophil elastase released into the lung tissue durin