A rare AAT variant presenting in a COPD patient: Q0 amersfoort mutation
Introduction: Alpha-1 antitrypsin (AAT) deficiency, characterized by reduced synthesis of a serine protease inhibitor in liver cells, has been recognized to contribute to the development of emphysema and liver disease. Additional clinical manifestations encompassing respiratory disorders and dermato...
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| Principais autores: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2024-01-01
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| coleção: | Respiratory Medicine Case Reports |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2213007124001072 |
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