Alpha-1 Antitrypsin Deficiency.

Alisha M Gruntman, Wen Xue, Terence R Flotte

Methods in molecular biology (Clifton, N.J.) 2024

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Alpha-1 antitrypsin (AAT) deficiency is a common monogenic disorder in which there is a strong founder effect of a single missense mutation in SERPINA1, the gene encoding this major circulating serum anti-protease that is normally expressed primarily in hepatocytes. These features make AAT deficiency particularly attractive as a target for therapeutic gene editing using a wide variety of approaches. © 2024. The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature.