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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Detalles Bibliográficos
Autores principales: Eggenschwiler, Reto, Patronov, Atanas, Hegermann, Jan, Fráguas-Eggenschwiler, Mariane, Wu, Guangming, Cortnumme, Leon, Ochs, Matthias, Antes, Iris, Cantz, Tobias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6522476/
https://www.ncbi.nlm.nih.gov/pubmed/31097772
http://dx.doi.org/10.1038/s41598-019-44043-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6522476/
https://www.ncbi.nlm.nih.gov/pubmed/31097772
http://dx.doi.org/10.1038/s41598-019-44043-3

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