Article
Alpha-1 antitrypsin Null mutations and severity of emphysema.
Respiratory medicine - 1 Jun 2008
Fregonese Laura, Stolk Jan, Frants Rune R, Veldhuisen Barbera
Abstract excerpt
BACKGROUND: Alpha-1 antitrypsin (AAT) deficiency is an autosomal-codominant disorder, caused by mutations in the SERPINA1 gene on chromosome 14. Individuals affected by the most common mutations, SZ and ZZ, have serum AAT concentrations of 25% and 15% of normal levels, and present a higher risk of emphysema. Mutations causing total absence of serum AAT (Null mutations) were suggested to be associated with very...
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