1 -Antitrypsin deficiency: a variant with no detectable   1 -antitrypsin.
No alpha(1)-antitrypsin could be detected in the serum of a 24-year-old man with advanced pulmonary emphysema by agarose electrophoresis, immnuno-electrophoresis, double diffusion in agarose gel, or alpha(1)-antitrypsin genetic typing by a combination of starch-gel electrophoresis and crossed antigen-antibody electrophoresis. A circulating alpha(1)-antitrypsin inactivator could not be demonstrated. Evidence was obtained in family members of genetic transmission of this new alpha(1)-antitrypsin variant.
D000328:Adult; D000483:Alleles; D000510:Alpha-Globulins / Q000032:analysis*; D004592:Electrophoresis, Starch Gel; D005838:Genotype; D006801:Humans; D007122:Immunoelectrophoresis; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood* / Q000235:genetics; D011656:Pulmonary Emphysema / Q000097:blood / Q000235:genetics; D014361:Trypsin Inhibitors / Q000097:blood*
D000510:Alpha-Globulins; D014361:Trypsin Inhibitors