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Prevalence of Titin Truncating Variants in General Population

BACKGROUND: Truncating titin (TTN) mutations, especially in A-band region, represent the most common cause of dilated cardiomyopathy (DCM). Clinical interpretation of these variants can be challenging, as these variants are also present in reference populations. We carried out systematic analyses of...

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Detalles Bibliográficos
Autores principales: Akinrinade, Oyediran, Koskenvuo, Juha W., Alastalo, Tero-Pekka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4689403/
https://www.ncbi.nlm.nih.gov/pubmed/26701604
http://dx.doi.org/10.1371/journal.pone.0145284