KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1

BACKGROUND: Variable expressivity and incomplete penetrance between individuals with identical long QT syndrome (LQTS) causative mutations largely remain unexplained. Founder populations provide a unique opportunity to explore modifying genetic effects. We examined the role of a novel synonymous KCN...

Descripción completa

Detalles Bibliográficos
Autores principales: Kapplinger, Jamie D, Erickson, Anders, Asuri, Sirisha, Tester, David J, McIntosh, Sarah, Kerr, Charles R, Morrison, Julie, Tang, Anthony, Sanatani, Shubhayan, Arbour, Laura, Ackerman, Michael J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2017
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502312/
https://www.ncbi.nlm.nih.gov/pubmed/28264985
http://dx.doi.org/10.1136/jmedgenet-2016-104153

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502312/
https://www.ncbi.nlm.nih.gov/pubmed/28264985
http://dx.doi.org/10.1136/jmedgenet-2016-104153

Ejemplares similares