Cargando…
Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory
Sudden cardiac death (SCD) in people before the age of 35 years is a devastating event for any family. The causes of SCD in the young can be broadly divided into two groups: heritable cardiac disorders that affect the heart structure (cardiomyopathies) and primary electrical disorders (cardiac ion c...
Autores principales: | Leong, Ivone U. S., Stuckey, Alexander, Belluoccio, Daniele, Fan, Vicky, Skinner, Jonathan R., Prosser, Debra O., Love, Donald. R. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753651/ https://www.ncbi.nlm.nih.gov/pubmed/29099038 http://dx.doi.org/10.3390/medsci5040022 |
Ejemplares similares
-
Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene
por: Leong, Ivone U. S., et al.
Publicado: (2015) -
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations
por: Leong, Ivone US, et al.
Publicado: (2015) -
Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity
por: Leong, Ivone U.S., et al.
Publicado: (2017) -
Expression of a Mutant kcnj2 Gene Transcript in Zebrafish
por: Leong, Ivone U. S., et al.
Publicado: (2013) -
The application of massively parallel sequencing technologies in diagnostics
por: Dahl, Andreas, et al.
Publicado: (2010)