Characterisation of a type II functionally-deficient variant of alpha-1-antitrypsin discovered in the general population

Lung disease in alpha-1-antitrypsin deficiency (AATD) results from dysregulated proteolytic activity, mainly by neutrophil elastase (HNE), in the lung parenchyma. This is the result of a substantial reduction of circulating alpha-1-antitrypsin (AAT) and the presence in the plasma of inactive polymer...

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Detalles Bibliográficos
Autores principales: Laffranchi, Mattia, Elliston, Emma L. K., Gangemi, Fabrizio, Berardelli, Romina, Lomas, David A., Irving, James A., Fra, Annamaria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329500/
https://www.ncbi.nlm.nih.gov/pubmed/30633749
http://dx.doi.org/10.1371/journal.pone.0206955

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