Literature DB >> 1101154

Further examples confirming the existence of Pi null (Pi-).

J P Martin.   

Abstract

The existence of the Pi- allele (Pi null) was envisaged by Talamo when he discovered a subject whose serum contained no alpha-1-antitrypsin. We were able to demonstrate that a single dose of this allele exists in three families which we studied. In a fourth family, the propositus carried this allele in duplicate (phenotype Pi- -), which agrees with the results of the quantitative analyses carried out on the parents. The importance of the Pi- allele is envisaged and the necessity of the genetic survey is generally essential to demonstrate its existence.

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Year:  1975        PMID: 1101154

Source DB:  PubMed          Journal:  Pathol Biol (Paris)        ISSN: 0369-8114


  4 in total

1.  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

2.  Complete absence of serum alpha-1-antitrypsin in conjunction with an apparently normal gene structure.

Authors:  H Muensch; L Gaidulis; F Kueppers; S Y So; G Escano; V J Kidd; S L Woo
Journal:  Am J Hum Genet       Date:  1986-06       Impact factor: 11.025

3.  Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon.

Authors:  K Satoh; T Nukiwa; M Brantly; R I Garver; M Hofker; M Courtney; R G Crystal
Journal:  Am J Hum Genet       Date:  1988-01       Impact factor: 11.025

4.  Elastase inhibitor. Characterization of the human elastase inhibitor molecule associated with monocytes, macrophages, and neutrophils.

Authors:  E Remold-O'Donnell; J C Nixon; R M Rose
Journal:  J Exp Med       Date:  1989-03-01       Impact factor: 14.307

  4 in total

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