Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies

INTRODUCTION: Transgenic mice overexpressing mutated NEBL, encoding the cardiac-specific Z-disk protein nebulette, develop severe cardiac phenotypes. Since cardiomyopathies are commonly familial and because mutations in a single gene may result in variable phenotypes, we tested the hypothesis that N...

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Bibliografski detalji
Izdano u:Arch Med Sci
Glavni autori: Perrot, Andreas, Tomasov, Pavol, Villard, Eric, Faludi, Reka, Melacini, Paola, Lossie, Janine, Lohmann, Nadine, Richard, Pascale, De Bortoli, Marzia, Angelini, Annalisa, Varga-Szemes, Akos, Sperling, Silke R., Simor, Tamás, Veselka, Josef, Özcelik, Cemil, Charron, Philippe
Format: Artigo
Jezik:Inglês
Izdano: Termedia Publishing House 2016
Teme:
Basic Research
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4848357/
https://ncbi.nlm.nih.gov/pubmed/27186169
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5114/aoms.2016.59250
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