Alpha1-antitrypsin deficiency with M-like phenotype. Issue 3 (June 1977)

• Record Type: Journal Article
• Authors: Kueppers, F; Utz, G; Simon, B
• Is Part Of: Journal of medical genetics. Volume 14:Issue 3(1977)
• Page Start: 183
• Page End: 186
• Publication Date: 1977-06
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.14.3.183
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A patient with a low serum concentration of alpha1-antitrypsin (0-1 g/l) but with an M-like phenotype is described. Her parents and 2 sibs have a PIM phenotype, but all except the father have approximately half-normal levels of alpha1-antitrypsin: The M-like variant apparently cannot be distinguished from M-alpha1-antitrypsin, when it occurs with M in heterozygotes. The proposita has severe airways obstruction and emphysema, and her father has moderate chronic obstructive pulmonary disease. The mother and 2 sibs are healthy.