our studies have focused on determining the molecular basis of alpha1- antitrypsin (alpha1AT) deficiency, the study of neonatal alpha1AT serum levels and the identification of alpha1AT deficient individuals for study in the alpha1AT Deficiency Registry. In the past year we have identified a novel null alpha1AT variant, alpha1AT Null-Trastevere, characterized the first splicing mutation identified in the alpha1AT gene (alpha1AT Null-West) and determined the molecular basis of the novel null allele Null-New Hope. Finally, serving as the reference alpha1AT phenotyping laboratory for the alpha1AT Deficiency Registry, the lab has identified 459 profoundly alpha1AT-deficient individuals throughout the USA and Canada.
NIH ExPorter
NIH ExPorter