background currently, there is a remarkable lack of genetic epidemiological studies on alpha 1-antitrypsin (aat) deficiency in about half of the 193 countries of the world. this fact impedes the establishment of a true prevalence pattern of this deleterious hereditary disorder in extensive regions of human population. objectives the aim of the present study was to generate detailed maps of the ...

background alpha-1 antitrypsin deficiency is a genetic disease which affects both lung and liver. this disease is a recognized factor for chronic obstructive pulmonary disease (copd). however its importance as the cause of copd in a country such as iran is unclear. objectives this study was conducted to find out the role of α-1 antitrypsin deficiency as a cause of copd in iranian patients. mate...

context alpha-1-antitrypsin (a1at) is the most abundant liver-derived, highly polymorphic, glycoprotein in plasma. hereditary deficiency of alpha-1-antitrypsin in plasma (a1atd) is a consequence of accumulation of polymers of a1at mutants in endoplasmic reticulum of hepatocytes and other a1at-producing cells. one of the clinical manifestations of a1atd is liver disease in childhood and cirrhosi...