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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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Detalles Bibliográficos
Autores principales:	de Seynes, Camille, Ged, C., de Verneuil, H., Chollet, N., Balduyck, M., Raherison, C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198725/ https://www.ncbi.nlm.nih.gov/pubmed/28053854 http://dx.doi.org/10.1016/j.rmcr.2016.11.008

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