Literature DB >> 14224514

HEREDITARY DEFICIENCY OF SERUM ALPHA-L-ANTITRYPSIN.

F KUEPPERS, W A BRISCOE, A G BEARN.   

Abstract

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.

Entities:  

Keywords:  BLOOD PROTEIN DISORDERS; BLOOD PROTEINS; GENETICS, HUMAN; GENETICS, POPULATION; GEORGIA; GLYCOPROTEINS; TRYPSIN INHIBITORS

Mesh:

Substances:

Year:  1964        PMID: 14224514     DOI: 10.1126/science.146.3652.1678

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


  24 in total

1.  Homozygous and heterozygous alpha-1-antitrypsin deficiency: prevalence in pulmonary emphysema.

Authors:  D C Hutchison
Journal:  Proc R Soc Med       Date:  1976-02

Review 2.  Antitrypsin and the liver.

Authors:  P W Brunt
Journal:  Gut       Date:  1974-07       Impact factor: 23.059

3.  Enzyme deficiency and emphysema.

Authors: 
Journal:  Br Med J       Date:  1971-09-18

4.  [ 1 -Antitrypsin determinations in patients with Kartagener syndrome].

Authors:  P U Heuckenkamp; M Marshall; G Parrisius; N Zöllner
Journal:  Klin Wochenschr       Date:  1972-08-15

5.  Cirrhosis in an adult with emphysema and alpha 1-antitrypsin deficiency.

Authors:  R R Babb; G A Lillington; R L Kempson
Journal:  Am J Dig Dis       Date:  1973-09

6.  Enzymes and emphysema.

Authors: 
Journal:  Br Med J       Date:  1973-01-06

7.  Alpha antitrypsin deficiency and pulmonary emphysema.

Authors:  M C Jones; G O Thomas
Journal:  Thorax       Date:  1971-11       Impact factor: 9.139

8.  Prevalence of 1-antitrypsin deficiency in Japan.

Authors:  K Nomiyama; H Nomiyama; H Matsui
Journal:  Bull World Health Organ       Date:  1971       Impact factor: 9.408

Review 9.  Alpha-1-antitrypsin deficiency: a biological enigma.

Authors:  A G Bearn
Journal:  Gut       Date:  1978-06       Impact factor: 23.059

Review 10.  Genetics of chronic obstructive pulmonary disease.

Authors:  Carola Seifart; Alexandra Plagens
Journal:  Int J Chron Obstruct Pulmon Dis       Date:  2007
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