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. 1989 Sep;44(9):758–759. doi: 10.1136/thx.44.9.758

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

C P Kelly 1, D N Tyrrell 1, G S McDonald 1, D B Whitehouse 1, J S Prichard 1
PMCID: PMC462061  PMID: 2588214

Abstract

A patient with advanced emphysema and cor pulmonale had the changes of alpha 1 antitrypsin deficiency in a liver biopsy specimen and was shown to have the phenotype PiFZ. This case supports the contention that the F allele of alpha 1 antitrypsin predisposes to the development of emphysema, particularly when it occurs in conjunction with the Z allele.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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