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

Volumn 96, Issue 20, 2010, Pages 1651-1655

  Griffin, Helen R ^a   Töpf, Ana ^a   Glen, Elise ^a   Zweier, Christiane ^b   Stuart, A Graham ^c   Parsons, Jonathan ^d   Peart, Ian ^e   Deanfield, John ^f   O'Sullivan, John ^g   Rauch, Anita ^b,h   Scambler, Peter ⁱ   Burn, John ^a   Cordell, Heather J ^a   Keavney, Bernard ^a   Goodship, Judith A ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^d LEEDS GENERAL INFIRMARY   (United Kingdom)

^e ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g FREEMAN HOSPITAL   (United Kingdom)

^h UNIVERSITY OF ZURICH   (Switzerland)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME; CODING; CONTROLLED STUDY; EXON; FALLOT TETRALOGY; FEMALE; GENE DELETION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENETICS; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PARENT; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN STABILITY; SINGLE NUCLEOTIDE POLYMORPHISM; TAXONOMY; TBX1 GENE;

BASE PAIRING; CASE-CONTROL STUDIES; CHROMOSOME DELETION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; T-BOX DOMAIN PROTEINS; TETRALOGY OF FALLOT; TRANSCRIPTIONAL ACTIVATION;

EID: 78049292259     PISSN: 13556037     EISSN: 1468201X     Source Type: Journal    
DOI: 10.1136/hrt.2010.200121     Document Type: Article

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