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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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2014
Témata:
Research
On-line přístup: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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