Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot

BACKGROUND: Epidemiological studies indicate a substantial excess familial recurrence of non-syndromic Tetralogy of Fallot (TOF), implicating genetic factors that remain largely unknown. The Rho induced kinase 1 gene (ROCK1) is a key component of the planar cell polarity signalling pathway, which pl...

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Autores principales: Palomino Doza, Julian, Topf, Ana, Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, J David, Granados-Riveron, Javier, Bu’Lock, Frances A, O’Sullivan, John, Stuart, A Graham, Parsons, Jonathan, Relton, Caroline, Goodship, Judith, Henderson, Deborah J, Keavney, Bernard
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3734041/
https://ncbi.nlm.nih.gov/pubmed/23782575
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2156-14-57
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