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Open Access
Peer-reviewed
Research Article
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure
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Sari U. M. Vanninen ,
Roles Data curation, Formal analysis, Investigation, Project administration, Resources, Software, Visualization, Writing – original draft, Writing – review & editing
* E-mail: sari.vanninen@fimnet.fi
Affiliation Heart Center, Tampere University Hospital, Tampere, Finland
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Krista Leivo,
Roles Data curation, Formal analysis, Investigation, Resources, Writing – original draft, Writing – review & editing
Affiliation Heart and Lung Center, Helsinki University Hospital, University of Helsinki, Helsinki, Finland
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Eija H. Seppälä,
Roles Formal analysis, Investigation, Resources, Validation, Writing – review & editing
Affiliation Blueprint Genetics, Helsinki, Finland
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Katriina Aalto-Setälä,
Roles Investigation, Resources, Writing – review & editing
Affiliations Heart Center, Tampere University Hospital, Tampere, Finland, Faculty of Medicine and Life Sciences, University of Tampere, Tampere, Finland
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Olli Pitkänen,
Roles Investigation, Resources, Writing – review & editing
Affiliation Divisions of Pediatric Cardiology, Children's Hospital/Helsinki University Hospital, Helsinki, Finland
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Piia Suursalmi,
Roles Investigation, Resources, Writing – review & editing
Affiliation Department of Pediatrics, Tampere University Hospital, Tampere, Finland
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Antti-Pekka Annala,
Roles Investigation, Resources, Writing – review & editing
Affiliation Department of Internal Medicine, Seinäjoki Central Hospital, Seinäjoki, Finland
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Ismo Anttila,
Roles Investigation, Resources, Writing – review & editing
Affiliation Department of Internal Medicine, Seinäjoki Central Hospital, Seinäjoki, Finland
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Tero-Pekka Alastalo,
Roles Investigation, Resources, Writing – review & editing
Affiliations Blueprint Genetics, Helsinki, Finland, Divisions of Pediatric Cardiology, Children's Hospital/Helsinki University Hospital, Helsinki, Finland
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Samuel Myllykangas,
Roles Investigation, Methodology, Resources, Writing – review & editing
Affiliations Blueprint Genetics, Helsinki, Finland, Institute of Biomedicine, University of Helsinki, Helsinki, Finland
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Tiina M. Heliö ,
Contributed equally to this work with: Tiina M. Heliö, Juha W. Koskenvuo
Roles Data curation, Formal analysis, Investigation, Methodology, Project administration, Resources, Software, Visualization, Writing – original draft, Writing – review & editing
Affiliation Heart and Lung Center, Helsinki University Hospital, University of Helsinki, Helsinki, Finland
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Juha W. Koskenvuo
Contributed equally to this work with: Tiina M. Heliö, Juha W. Koskenvuo
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Resources, Software, Supervision, Visualization, Writing – original draft, Writing – review & editing
Affiliations Blueprint Genetics, Helsinki, Finland, Department of Clinical Physiology and Nuclear Medicine, HUS Medical Imaging Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland
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Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure
- Sari U. M. Vanninen,
- Krista Leivo,
- Eija H. Seppälä,
- Katriina Aalto-Setälä,
- Olli Pitkänen,
- Piia Suursalmi,
- Antti-Pekka Annala,
- Ismo Anttila,
- Tero-Pekka Alastalo,
- Samuel Myllykangas
- Published: September 20, 2018
- https://doi.org/10.1371/journal.pone.0203422