Article
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.
Heart (British Cardiac Society) - 1 Oct 2010
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
Abstract excerpt
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 resequencing coding exons and splice-site boundaries. Common TBX1 variants were investigated by genotyping 20...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.