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Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant...

Schneider, Carolin V.; Hamesch, Karim; Gross, Annika; Mandorfer, Mattias; Moeller, Linda S.; Pereira, Vitor; Pons, Monica; Kuca, Pawel

Homozygosity for the Pi∗Z variant of the gene that encodes the alpha-1 antitrypsin peptide (AAT), called the Pi∗ZZ genotype, causes a liver and lung disease called alpha-1 antitrypsin deficiency. Heterozygosity (the Pi∗MZ genotype) is a risk factor for cirrhosis in individuals with liver disease. Up to 4% of Europeans have the Pi∗MZ genotype; we compared features of adults with and without Pi∗MZ genotype among ...

Date: 2020   |   Origin: Serviço de Saúde da Região Autónoma da Madeira, E.P.E.
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