Literature DB >> 6610506

Is the PiF allele of alpha 1-antitrypsin associated with pulmonary disease?

G Beckman, N L Stjernberg, A Eklund.   

Abstract

Pulmonary function was studied in thirteen individuals heterozygous for the alpha 1-antitrypsin allele PiF. Respiratory symptoms were present in seven out of twelve individuals with the FM phenotype, of which five had pulmonary function impairment, mostly of the obstructive type. One patient with the phenotype FZ had bronchitic symptoms and a mild obstructive spirometry pattern. The results suggest a relationship between the PiF allele and chronic obstructive pulmonary disease, which is independent of the serum alpha 1-AT level.

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Year:  1984        PMID: 6610506

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  6 in total

1.  A challenging diagnosis of alpha-1-antitrypsin deficiency: identification of a patient with a novel F/Null phenotype.

Authors:  Michael R Ringenbach; Erin Banta; Melissa R Snyder; Timothy J Craig; Faoud T Ishmael
Journal:  Allergy Asthma Clin Immunol       Date:  2011-11-13       Impact factor: 3.406

2.  Characterization of the molecular basis of the alpha 1-antitrypsin F allele.

Authors:  H Okayama; M Brantly; M Holmes; R G Crystal
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

Review 3.  alpha-1-Antitrypsin and the pathogenesis of emphysema.

Authors:  R A Stockley
Journal:  Lung       Date:  1987       Impact factor: 2.584

4.  Heterozygous FZ alpha 1 antitrypsin deficiency associated with severe emphysema and hepatic disease: case report and family study.

Authors:  C P Kelly; D N Tyrrell; G S McDonald; D B Whitehouse; J S Prichard
Journal:  Thorax       Date:  1989-09       Impact factor: 9.139

Review 5.  alpha1-Antitrypsin deficiency . 6: new and emerging treatments for alpha1-antitrypsin deficiency.

Authors:  R A Sandhaus
Journal:  Thorax       Date:  2004-10       Impact factor: 9.139

6.  The significance of the F variant of alpha-1-antitrypsin and unique case report of a PiFF homozygote.

Authors:  Nicola Jane Sinden; Firas Koura; Robert Andrew Stockley
Journal:  BMC Pulm Med       Date:  2014-08-07       Impact factor: 3.317

  6 in total

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