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Abnormal alpha-1 antitrypsin proteins may bind together to form a large moleculeor polymerthat cannot leave the liverThe accumulation of these polymers results in liver damageIn additionlung tissue is destroyed because not enough alpha-1 antitrypsin is available to protect against neutrophil elastasePolymers of alpha-1 antitrypsin may also contribute to excessive inflammationwhich may explain some of the other features of alpha-1 antitrypsin deficiencysuch as a skin condition called panniculitis.
AffiliationDepartments of Health Sciences and GeneticsUniversity of LeicesterLeicesterUnited Kingdom.
Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism.
This section describes post-translational modificationsPTMsand/or processing events.
AffiliationDivision of Therapeutics and Molecular MedicineQueen’s Medical CentreNottinghamUnited Kingdom.
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