Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

PURPOSE: Variants in genes encoding sarcomeric proteins are the most common cause of inherited cardiomyopathies. However, the underlying genetic cause remains unknown in many cases. We used exome sequencing to reveal the genetic etiology in patients with recessive familial cardiomyopathy. METHODS: E...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Osborn, Daniel Peter Sayer, Emrahi, Leila, Clayton, Joshua, Tabrizi, Mehrnoush Toufan, Wan, Alex Yui Bong, Maroofian, Reza, Yazdchi, Mohammad, Garcia, Michael Leon Enrique, Galehdari, Hamid, Hesse, Camila, Shariati, Gholamreza, Mazaheri, Neda, Sedaghat, Alireza, Goullée, Hayley, Laing, Nigel, Jamshidi, Yalda, Tajsharghi, Homa
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2020
Assuntos:
Brief Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8026398/
https://ncbi.nlm.nih.gov/pubmed/33288880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-01028-2
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