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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

Lookup NU author(s): Dr Helen Griffin, Dr Ana Topf, Dr Elise Glen, Dr John O'Sullivan, Professor Sir John Burn, Professor Heather Cordell, Professor Bernard Keavney, Professor Judith Goodship

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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

Publication type: Article

Journal: Heart

Year: 2010

Volume: 96

Issue: 20

Pages: 1651-1655

Print publication date: 01/10/2010

ISSN (print): 1355-6037

ISSN (electronic): 1468-201X

Publisher: BMJ Group

URL: http://dx.doi.org/10.1136/hrt.2010.200121

DOI: 10.1136/hrt.2010.200121


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