Titin Truncating Variants in Dilated Cardiomyopathy – Prevalence and Genotype-Phenotype Correlations

TTN gene truncating variants are common in dilated cardiomyopathy (DCM), although data on their clinical significance is still limited. We sought to examine the frequency of truncating variants in TTN in patients with DCM, including familial DCM (FDCM), and to look for genotype-phenotype correlation...

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Publicado en:PLoS One
Main Authors: Franaszczyk, Maria, Chmielewski, Przemyslaw, Truszkowska, Grazyna, Stawinski, Piotr, Michalak, Ewa, Rydzanicz, Malgorzata, Sobieszczanska-Malek, Malgorzata, Pollak, Agnieszka, Szczygieł, Justyna, Kosinska, Joanna, Parulski, Adam, Stoklosa, Tomasz, Tarnowska, Agnieszka, Machnicki, Marcin M., Foss-Nieradko, Bogna, Szperl, Malgorzata, Sioma, Agnieszka, Kusmierczyk, Mariusz, Grzybowski, Jacek, Zielinski, Tomasz, Ploski, Rafal, Bilinska, Zofia T.
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2017
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5207678/
https://ncbi.nlm.nih.gov/pubmed/28045975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0169007
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