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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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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Public Library of Science
2012
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3520848/ https://ncbi.nlm.nih.gov/pubmed/23251618 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0051762 |
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