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Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies

Point mutations are the most common cause of inherited diseases. Bioinformatics tools can help to predict the pathogenicity of mutations found during genetic screening, but they may work less well in determining the effect of point mutations in non-coding regions. In silico analysis of intronic vari...

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Detalles Bibliográficos
Autores principales: Frisso, Giulia, Detta, Nicola, Coppola, Pamela, Mazzaccara, Cristina, Pricolo, Maria Rosaria, D’Onofrio, Antonio, Limongelli, Giuseppe, Calabrò, Raffaele, Salvatore, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133883/
https://www.ncbi.nlm.nih.gov/pubmed/27834932
http://dx.doi.org/10.3390/ijms17111883

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