Update on α1-antitrypsin deficiency
α1-Antitrypsin deficiency (AATD) is an inherited metabolic disorder in which mutations in the coding sequence of the SERPINA1 gene prevent secretion of α1-antitrypsin (α1-AT) and cause predisposition to pulmonary and liver diseases. The heterogeneity of clinical manifestations in AATD is related to...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
European Respiratory Society
2018-06-01
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| Series: | Breathe |
| Online Access: | http://breathe.ersjournals.com/content/14/2/e17.full |