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...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2017
Assuntos:
Genotype-Phenotype Correlations
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5502312/
https://ncbi.nlm.nih.gov/pubmed/28264985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-104153
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