Publication:

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 (2010)

Author(s): Griffin HR, Topf A, Glen E, Zweier C, Stuart AG, Parsons J, Peart I, Deanfield J, O'Sullivan J, Rauch A, Scambler P, Burn J, Cordell HJ, Keavney B, Goodship JA

      • Date: 01-10-2010
      • Journal: Heart
      • Volume: 96
      • Issue: 20
      • Pages: 1651-1655
      • Publisher: BMJ Group
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: CONGENITAL HEART-DISEASE CARDIOVASCULAR DEFECTS 22Q11.2 DELETION PHENOTYPE MICE HAPLOINSUFFICIENCY MUTATIONS REGION GENE

      Staff

      Professor Sir John Burn
      Professor of Clinical Genetics

      Professor Bernard Keavney
      Professor of Cardiology