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A combined in silico and in vitro study on mouse Serpina1a antitrypsin-deficiency mutants
Certain point-mutations in the human SERPINA1-gene can cause severe α1-antitrypsin-deficiency (A1AT-D). Affected individuals can suffer from loss-of-function lung-disease and from gain-of-function liver-disease phenotypes. However, age of onset and severity of clinical appearance is heterogeneous am...
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| Publicado no: | Sci Rep |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6522476/ https://ncbi.nlm.nih.gov/pubmed/31097772 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-44043-3 |
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