Identification of a novel alpha1-antitrypsin variant
Alpha-1-antitrypsin deficiency (A1ATD) is a genetic condition caused by SERPINA1 mutations, which results into decreased protease inhibitor activity in the serum and predisposes to emphysema and/or to liver disease due to accumulation of the abnormal protein in the hepatic cells. In most cases the c...
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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2017-01-01
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| coleção: | Respiratory Medicine Case Reports |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S221300711630123X |
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