Author/Authors :
Gholami، Sara نويسنده Department of Human Genetics, Mashhad University of Medical Sciences, Mashhad, Iran Gholami, Sara , Hamzehloei، Tayebeh نويسنده Department of Genetics, Mashhad University of Medical Sciences, Mashhad, IR Iran ,
Abstract :
In this review article, in addition to the clinical manifestation of the alpha 1 antitryp-sin deficiency, the genetics and molecular diagnosis of the disease and the effects of the causative mutations were reviewed.