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Immunologic assay of alpha1-antitrypsin in deficient subjects and their families

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Alpha1-antitrypsin (alpha1-at) concentration in serum was measured by a method of single radial diffusion. The normal concentration was 212±32 mg/100 ml. Values for members of the families in which the alpha1-at deficiency occurred were trimodally distributed with values of 25±6, 120±46, and 227±56 mg/100 ml. Subjects with low values were homozygous for the deficiency gene, those with intermediate values were heterozygous, and those with normal values were homozygous for the normal gene.

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Supported in part by grant HE-06285 from the United States Public Health Service.

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Kueppers, F. Immunologic assay of alpha1-antitrypsin in deficient subjects and their families. Hum Genet 5, 54–58 (1967).

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  • Internal Medicine
  • Metabolic Disease
  • Normal Concentration
  • Normal Gene
  • Radial Diffusion