Literature DB >> 806249

The genetics of alpha1-antitrypsin: a family study in England and Scotland.

P J Cook.   

Abstract

The results of Pi typing 5237 unrelated Caucasians are presented, together with the phenotypes of 2203 children from 1156 families. The estimate of the gene frequencies in the United Kingdom are Pi-M equal 0-9303, Pi-S equal 0-050, Pi-Z equal 0-0141, Pi-minus equal 0-0015, Pi-V equal 0-0004. Evidence for three new alleles, Pi-W2, Pi-Y2 is presented. The results of twin studies and quantitative studies are discussed.

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Year:  1975        PMID： 806249     DOI： 10.1111/j.1469-1809.1975.tb00611.x

Source DB:  PubMed          Journal:  Ann Hum Genet        ISSN： 0003-4800            Impact factor:   1.670


  25 in total

1.  Alpha-1-antitrypsin globules in the liver and PiM phenotype.

Authors:  J W Bradfield; W K Blenkinsopp
Journal:  J Clin Pathol       Date:  1977-05       Impact factor: 3.411

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

Authors:  P Arnaud; C Chapuis-Cellier; P Vittoz; R Creyssel
Journal:  Hum Genet       Date:  1977-11-02       Impact factor: 4.132

3.  Genetic regulation of alpha-1-antitrypsin levels in the neonatal period: the influence of the PiS allele and the PiM subtypes.

Authors:  P Auconi; R Biagini; R Donnini; A Fabiano; D Ragusa; G Massi
Journal:  Eur J Pediatr       Date:  1981-05       Impact factor: 3.183

4.  Chromosome 14 markers in rheumatoid arthritis.

Authors:  W Ollier; W Thomson; S Welch; G G de Lange; A Silman
Journal:  Ann Rheum Dis       Date:  1988-10       Impact factor: 19.103

5.  Characterization of alpha-1-antitrypsin by isoelectric focusing on an ultrathin polyacrylamide gel layer. An economic high-resolution system for determining PiM subtypes.

Authors:  G Massi; A Fabiano; D Ragusa; P Auconi
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

6.  Segregation distortion of the alpha 1-antitrypsin Pi Z allele.

Authors:  R M Iammarino; D K Wagener; R C Allen
Journal:  Am J Hum Genet       Date:  1979-07       Impact factor: 11.025

7.  Pulmonary emphysema associated with the FZ alpha 1-antitrypsin phenotype.

Authors:  D W Cockcroft; R K Tennent; S L Horne
Journal:  Can Med Assoc J       Date:  1981-03-15       Impact factor: 8.262

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

Authors:  D W Cox
Journal:  Am J Hum Genet       Date:  1981-05       Impact factor: 11.025

9.  Serum levels of alpha1-antitrypsin predict phenotypic expression of the alpha1-antitrypsin gene.

Authors:  Steven J Steiner; Sandeep K Gupta; Joseph M Croffie; Joseph F Fitzgerald
Journal:  Dig Dis Sci       Date:  2003-09       Impact factor: 3.199

10.  Alpha-1-antitrypsin (alpha 1AT) phenotypes and PiM subtypes in Italy. Evidence of considerable geographic variability.

Authors:  G Massi; R Cotumaccio; P Auconi
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132
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