Hereditary Deficiency of Serum Alpha-l-antitrypsin.


Deficiency of the serum alpha(1),-antitrypsin appears to be under genetic control. The level of this protein is reduced to less than 10 percent of the norm in individuals homozygous for the trait, who may suffer from pulmonary emphysema. Heterozygous individuals have a concentration of serum alpha(1)-antitrypsin between 50 and 60 percent of normal, but appear to be in good health. The estimated heterozygous frequency of the trait in a small white population in Georgia is 2.1 percent.


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@article{Kueppers1964HereditaryDO, title={Hereditary Deficiency of Serum Alpha-l-antitrypsin.}, author={Friedrich Kueppers and William Briscoe and Alexander G. Bearn}, journal={Science}, year={1964}, volume={146 3652}, pages={1678-9} }