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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3734041/ https://www.ncbi.nlm.nih.gov/pubmed/23782575 http://dx.doi.org/10.1186/1471-2156-14-57 |
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