Cargando…
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...
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 |
Ejemplares similares
-
A common polymorphism in the SCN5A gene is associated with dilated cardiomyopathy
por: Mazzaccara, Cristina, et al.
Publicado: (2018) -
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes
por: Mazzaccara, Cristina, et al.
Publicado: (2022) -
Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes
por: Mazzaccara, Cristina, et al.
Publicado: (2021) -
Allelic Complexity in Long QT Syndrome: A Family-Case Study
por: Zullo, Alberto, et al.
Publicado: (2017) -
Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications
por: Girolami, Francesca, et al.
Publicado: (2018)