Literature DB >> 1081483

Does alpha-1-antitrypsin P1 null phenotype exist?

J P Martin, R Sesboue, R Charlionet, C Ropartz.   

Abstract

A second case of Pi null alpha-1-antitrypsin (AA) deficiency is described. In fact, the serum's subject contains 5 mug of AA per millilitre. With radiolabelled specific antibodies, it is possible to describe the Pi phenotype associated to this deficiency. The pattern which is obtained is like the ordinary Pi M, but 500 times lower than normal values. In contrast to a common deficient variant (ZZ or MZ), the subject tissues do not contain periodic acid-schiff positive inclusion bodies. The "normal" pattern obtained after antigen-antibody crossed electrophoresis, would be in favour of a deficient anomaly hereditarily transmitted.

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Year:  1975        PMID: 1081483     DOI: 10.1007/bf00291944

Source DB:  PubMed          Journal:  Humangenetik        ISSN: 0018-7348


  17 in total

1.  Letter: Alpha 1-antitrypsin null gene (pi-).

Authors:  G Blundell; R B Cole; N C Nevin; B Bradley
Journal:  Lancet       Date:  1974-08-17       Impact factor: 79.321

2.  Letter: Alpha1-antitrypsin deficiency: PiO.

Authors:  J P Martin; D Vandeville; C Ropartz
Journal:  Lancet       Date:  1973-10-13       Impact factor: 79.321

3.  1 -Antitrypsin deficiency: a variant with no detectable 1 -antitrypsin.

Authors:  R C Talamo; C E Langley; C E Reed; S Makino
Journal:  Science       Date:  1973-07-06       Impact factor: 47.728

4.  Radioactive single radial diffusion: a method for increasing the sensitivity of immunochemical quantification of proteins in agar gel.

Authors:  D S Rowe
Journal:  Bull World Health Organ       Date:  1969-04       Impact factor: 9.408

5.  Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder.

Authors:  H L Sharp; R A Bridges; W Krivit; E F Freier
Journal:  J Lab Clin Med       Date:  1969-06

6.  Additional evidence for a deleted gene for serum alpha-1-antitrypsin.

Authors:  C Altay; M K Fagerhol; N Erdogan; B Say
Journal:  N Engl J Med       Date:  1973-10-04       Impact factor: 91.245

7.  Immunochemical quantitation of antigens by single radial immunodiffusion.

Authors:  G Mancini; A O Carbonara; J F Heremans
Journal:  Immunochemistry       Date:  1965-09

8.  [Identification of Pi system phenotypes and comparison of the methods for the detection of alpha-1-antitrypsin deficiencies].

Authors:  J P Martin; D Vandeville; C Martin; C Ropartz
Journal:  Ann Biol Clin (Paris)       Date:  1974       Impact factor: 0.459

9.  [Deficiency of alpha-1-antitrypsin and the allele Pi nul].

Authors:  J P Martin; C Ropartz
Journal:  Rev Fr Transfus Immunohematol       Date:  1975-03

10.  Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies.

Authors:  C B Laurell
Journal:  Anal Biochem       Date:  1966-04       Impact factor: 3.365

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  6 in total

1.  A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen.

Authors:  M H Hofker; T Nukiwa; H M van Paassen; M Nelen; J A Kramps; E C Klasen; R R Frants; R G Crystal
Journal:  Hum Genet       Date:  1989-02       Impact factor: 4.132

2.  Rare deficiency types of alpha 1-antitrypsin: electrophoretic variation and DNA haplotypes.

Authors:  D W Cox; G D Billingsley
Journal:  Am J Hum Genet       Date:  1989-06       Impact factor: 11.025

3.  In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin.

Authors:  G C Fraizer; T R Harrold; M H Hofker; D W Cox
Journal:  Am J Hum Genet       Date:  1989-06       Impact factor: 11.025

4.  Alpha1-antitrypsin deficiency with M-like phenotype.

Authors:  F Kueppers; G Utz; B Simon
Journal:  J Med Genet       Date:  1977-06       Impact factor: 6.318

5.  PiMheerlen, alpha PiM allele resulting in very low alpha 1-antitrypsin serum levels.

Authors:  J A Kramps; J W Brouwers; F Maesen; J H Dijkman
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Deletion/frameshift mutation in the alpha 1-antitrypsin null allele, PI*QObolton.

Authors:  G C Fraizer; M Siewertsen; T R Harrold; D W Cox
Journal:  Hum Genet       Date:  1989-11       Impact factor: 4.132

  6 in total

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