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A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy.
Maver, Ales; Zigman, Tamara; Rangrez, Ashraf Yusuf; Coric, Marijana; Homolak, Jan; Saric, Dalibor; Skific, Iva; Udovicic, Mario; Zekusic, Marija; Saleem, Umber; Laufer, Sandra D; Hansen, Arne; Frey, Norbert; Baric, Ivo; Peterlin, Borut.
Afiliação
  • Maver A; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, SI-1000 Ljubljana, Slovenia.
  • Zigman T; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
  • Rangrez AY; Department of Internal Medicine III, Cardiology and Angiology, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany.
  • Coric M; Clinical Department of Pathology and Cytology, University Hospital Centre Zagreb, Zagreb, Croatia.
  • Homolak J; Department of Pharmacology, School of Medicine, University of Zagreb, Zagreb, Croatia.
  • Saric D; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
  • Skific I; Department of Pathology, University Hospital Dubrava, Zagreb, Croatia.
  • Udovicic M; Division of Cardiology, Department of Internal Medicine, University Hospital Dubrava, Zagreb.
  • Zekusic M; Department of Transfusion and Regenerative Medicine, University Hospital Center Sestre milosrdnice, Zagreb, Croatia.
  • Saleem U; Department of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Laufer SD; Department of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Hansen A; Department of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Frey N; Department of Internal Medicine III (Cardiology, Angiology & Pulmology), University of Heidelberg, Germany.
  • Baric I; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
  • Peterlin B; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, SI-1000 Ljubljana, Slovenia; borut.peterlin@kclj.si.
Cold Spring Harb Mol Case Stud ; 2022 Jul 15.
Article em En | MEDLINE | ID: mdl-35840178
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article