Article
Enhanced phenotypic expression of alpha-1-antitrypsin deficiency in an MZ heterozygote with chronic hepatitis C.
The American journal of gastroenterology - 1 Sept 1998
Banner B F, Karamitsios N, Smith L, Bonkovsky H L
Abstract excerpt
A middle-aged white man of Scotch-Irish ancestry, being treated for chronic hepatitis C, was found to be heterozygous for alpha1-antitrypsin deficiency (PiMZ phenotype) after diagnostic PAS-positive, diastase-resistant globules were detected in a liver biopsy. The globules had not been present in a biopsy obtained 4 yr previously. He was also found to be heterozygous for the cys282tyr mutation of the HFE gene,...
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