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

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

Thorax 44(9): 758-759

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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Accession: 031685342

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PMID: 2588214

DOI: 10.1136/thx.44.9.758

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