Abstract
Our understanding of AATD has improved significantly since 1963 when the condition was first described. We have learnt a lot about the structure and function of the protein, the epidemiology of AATD, the identification and characterization of rare AATD and null variants, the factors involved in regulating gene expression and the variability in phenotype with respect to the two most commonly associated disease conditions affecting the lungs and the liver. Some of the important unanswered questions that will guide further future research are highlighted.
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