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Literature DB >> 4123485

1 -Antitrypsin deficiency: a variant with no detectable 1 -antitrypsin.

R C Talamo, C E Langley, C E Reed, S Makino.

Abstract

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.

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 1973 PMID： 4123485 DOI： 10.1126/science.181.4094.70

Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728

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Cited

36 in total

1. The ultrastructure of hepatocytes in alpha-1-antitrypsin deficiency with the genotype Pi--.

Authors: G Feldmann; J P Martin; R Sesboue; C Ropartz; R Perelman; M Nathanson; P Seringe; J P Benhamou
Journal: Gut Date: 1975-10 Impact factor: 23.059

2. Distribution of alpha-1-antitrypsin phenotypes in two Dutch population groups.

Authors: J J Hoffmann; W G van den Broek
Journal: Hum Genet Date: 1976-04-15 Impact factor: 4.132

3. The mechanisms of antitrypsin deficiency and their role in the pathogenesis of pulmonary emphysema.

Authors: J Lieberman
Journal: Pneumonologie Date: 1975-09-26

4. Does alpha-1-antitrypsin P1 null phenotype exist?

Authors: J P Martin; R Sesboue; R Charlionet; C Ropartz
Journal: Humangenetik Date: 1975-11-06

5. The effect of neuraminidase on genetic variants of alpha anitrypsin.

Authors: D W Cox
Journal: Am J Hum Genet Date: 1975-03 Impact factor: 11.025

6. Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin.

Authors: D Curiel; M Brantly; E Curiel; L Stier; R G Crystal
Journal: J Clin Invest Date: 1989-04 Impact factor: 14.808

1 -Antitrypsin deficiency: a variant with no detectable 1 -antitrypsin.

1. The ultrastructure of hepatocytes in alpha-1-antitrypsin deficiency with the genotype Pi--.

2. Distribution of alpha-1-antitrypsin phenotypes in two Dutch population groups.

3. The mechanisms of antitrypsin deficiency and their role in the pathogenesis of pulmonary emphysema.

4. Does alpha-1-antitrypsin P1 null phenotype exist?

5. The effect of neuraminidase on genetic variants of alpha anitrypsin.

6. Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin.

Review 7. alpha-1-Antitrypsin and the pathogenesis of emphysema.

8. Alpha-1-antitrypsin phenotypes in Lyon, France.

9. Pi subtyping by isoelectric focusing: further genetic studies and application to paternity examinations.

10. New variants of alpha 1-antitrypsin: comparison of Pi typing techniques.