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Browsing by Author "Benini, Federica"

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  • Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers
    Publication . Schneider, Carolin V.; Hamesch, Karim; Gross, Annika; Mandorfer, Mattias; Moeller, Linda S.; Pereira, Vitor; Pons, Monica; Kuca, Pawel; Reichert, Matthias C.; Benini, Federica; Burbaum, Barbara; Voss, Jessica; Gutberlet, Marla; Woditsch, Vivien; Lindhauer, Cecilia; Fromme, Malin; Kümpers, Julia; Bewersdorf, Lisa; Schaefer, Benedikt; Eslam, Mohammed; Bals, Robert; Janciauskiene, Sabina; Carvão, Joana; Neureiter, Daniel; Zhou, Biaohuan; Wöran, Katharina; Bantel, Heike; Geier, Andreas; Dirrichs, Timm; Stickel, Felix; Teumer, Alexander; Verbeek, Jef; Nevens, Frederik; Govaere, Olivier; Krawczyk, Marcin; Roskams, Tania; Haybaeck, Johannes; Lurje, Georg; Chorostowska-Wynimko, Joanna; Genesca, Joan; Reiberger, Thomas; Lammert, Frank; Krag, Aleksander; George, Jacob; Anstee, Quentin M.; Trauner, Michael; Datz, Christian; Gaisa, Nadine T.; Denk, Helmut; Trautwein, Christian; Aigner, Elmar; Strnad, Pavel
    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 persons without preexisting liver disease.
    2020Journal article Open access Show more