High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation

Cardiomyopathies might lead to end-stage heart disease with the requirement of drastic treatments like bridging up to transplant or heart transplantation. A not precisely known proportion of these diseases are genetically determined. We genotyped 43 index-patients (30 DCM, 10 ARVC, 3 RCM) with advan...

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Pubblicato in:PLoS One
Autori principali: Klauke, Baerbel, Gaertner-Rommel, Anna, Schulz, Uwe, Kassner, Astrid, zu Knyphausen, Edzard, Laser, Thorsten, Kececioglu, Deniz, Paluszkiewicz, Lech, Blanz, Ute, Sandica, Eugen, van den Bogaerdt, Antoon J., van Tintelen, J. Peter, Gummert, Jan, Milting, Hendrik
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2017
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5734774/
https://ncbi.nlm.nih.gov/pubmed/29253866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0189489
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