Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene

BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a heritable cardiac disorder characterized by life-threatening ventricular tachycardia caused by exercise or acute emotional stress. The standard diagnostic screening involves Sanger-based sequencing of 45 of the 105 transla...

Descripción completa

Detalles Bibliográficos
Autores principales: Leong, Ivone U. S., Sucich, Jennifer, Prosser, Debra O., Skinner, Jonathan R., Crawford, Jackie R., Higgins, Colleen, Love, Donald R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Informa Healthcare 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526874/
https://www.ncbi.nlm.nih.gov/pubmed/25835811
http://dx.doi.org/10.3109/03009734.2015.1029101

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526874/
https://www.ncbi.nlm.nih.gov/pubmed/25835811
http://dx.doi.org/10.3109/03009734.2015.1029101

Ejemplares similares