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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group US 2020
Teme:
Brief Communication
Online dostop: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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