Article
Identification and characterisation of eight novel SERPINA1 Null mutations.
Orphanet journal of rare diseases - 26 Nov 2014
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
Abstract excerpt
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) which is associated with a substantially increased risk of lung and liver disease. The most common pathogenic AAT...
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