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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4255440/
https://ncbi.nlm.nih.gov/pubmed/25425243
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0172-y
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