Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All Three: Explaining the Distribution of Truncation Variants in Titin

BACKGROUND—: Truncating mutations in the giant sarcomeric gene Titin are the most common type of genetic alteration in dilated cardiomyopathy. Detailed studies have amassed a wealth of information about truncating variant position in cases and controls. Nonetheless, considerable confusion exists as...

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Detalles Bibliográficos
Autor principal: Deo, Rahul C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5068190/
https://www.ncbi.nlm.nih.gov/pubmed/27625338
http://dx.doi.org/10.1161/CIRCGENETICS.116.001513

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5068190/
https://www.ncbi.nlm.nih.gov/pubmed/27625338
http://dx.doi.org/10.1161/CIRCGENETICS.116.001513

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