Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants

BACKGROUND: Tetralogy of Fallot (TOF) is common in individuals with hemizygous deletions of chromosome 22q11.2 that remove the cardiac transcription factor TBX1. OBJECTIVE: To assess the contribution of common and rare TBX1 genetic variants to TOF. DESIGN: Rare TBX1 variants were sought by resequenc...

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Detalles Bibliográficos
Autores principales: Griffin, Helen R, Töpf, Ana, Glen, Elise, Zweier, Christiane, Stuart, A Graham, Parsons, Jonathan, Peart, Ian, Deanfield, John, O'Sullivan, John, Rauch, Anita, Scambler, Peter, Burn, John, Cordell, Heather J, Keavney, Bernard, Goodship, Judith A
Formato: Texto
Lenguaje:English
Publicado: BMJ Group 2010
Materias:
Congenital Heart Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2976076/
https://www.ncbi.nlm.nih.gov/pubmed/20937753
http://dx.doi.org/10.1136/hrt.2010.200121

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