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Identification and characterisation of eight novel SERPINA1 Null mutations

BACKGROUND: Alpha-1 antitrypsin (AAT) is the most abundant circulating antiprotease and is a member of the serine protease inhibitor (SERPIN) superfamily. The gene encoding AAT is the highly polymorphic SERPINA1 gene, found at 14q32.1. Mutations in the SERPINA1 gene can lead to AAT deficiency (AATD)...

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Detalles Bibliográficos
Autores principales:	Ferrarotti, Ilaria, Carroll, Tomás P, Ottaviani, Stefania, Fra, Anna M, O’Brien, Geraldine, Molloy, Kevin, Corda, Luciano, Medicina, Daniela, Curran, David R, McElvaney, Noel G, Luisetti, Maurizio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255440/ https://www.ncbi.nlm.nih.gov/pubmed/25425243 http://dx.doi.org/10.1186/s13023-014-0172-y

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