"Catalucci, Daniele" - Selaus tekijän mukaan TUNICRIS-julkaisut

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    • Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy 

      Prondzynski, Maksymilian; Lemoine, Marc D.; Zech, Antonia T.L.; Horváth, András; Di Mauro, Vittoria; Koivumäki, Jussi T.; Kresin, Nico; Busch, Josefine; Krause, Tobias; Krämer, Elisabeth; Schlossarek, Saskia; Spohn, Michael; Friedrich, Felix W.; Münch, Julia; Laufer, Sandra D.; Redwood, Charles; Volk, Alexander E.; Hansen, Arne; Mearini, Giulia; Catalucci, Daniele; Meyer, Christian; Christ, Torsten; Patten, Monica; Eschenhagen, Thomas; Carrier, Lucie (2019)
      article
      <p>Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease accompanied by structural and contractile alterations. We identified a rare c.740C>T (p.T247M) mutation in ACTN2, encoding α-actinin 2 in a HCM ...