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Published in 2019 at "Biological Chemistry"
DOI: 10.1515/hsz-2018-0391
Abstract: Abstract In human α1-antitrypsin deficiency, homozygous carriers of the Z (E324K) mutation in the gene SERPINA1 have insufficient circulating α1-antitrypsin and are predisposed to emphysema. Misfolding and accumulation of the mutant protein in hepatocytes also…
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Keywords:
human antitrypsin;
antitrypsin;
zebrafish model;
antitrypsin deficiency ... See more keywords