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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5207678/
https://www.ncbi.nlm.nih.gov/pubmed/28045975
http://dx.doi.org/10.1371/journal.pone.0169007

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