A Novel SERPINA1 Mutation Causing Serum Alpha(1)-Antitrypsin Deficiency

Mutations in the SERPINA1 gene can cause deficiency in the circulating serine protease inhibitor α(1)-Antitrypsin (α(1)AT). α(1)AT deficiency is the major contributor to pulmonary emphysema and liver disease in persons of European ancestry, with a prevalence of 1 in 2500 in the USA. We present the d...

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Detalles Bibliográficos
Autores principales: Saunders, Darren N., Tindall, Elizabeth A., Shearer, Robert F., Roberson, Jacquelyn, Decker, Amy, Wilson, Jean Amos, Hayes, Vanessa M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520848/
https://www.ncbi.nlm.nih.gov/pubmed/23251618
http://dx.doi.org/10.1371/journal.pone.0051762

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520848/
https://www.ncbi.nlm.nih.gov/pubmed/23251618
http://dx.doi.org/10.1371/journal.pone.0051762

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