Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: Multiple heterozygosity and novel mutations

Congenital Heart Disease

Volumn 7, Issue 2, 2012, Pages 151-159

  Granados Riveron, Javier T ^a   Pope, Mark ^a   Bu'Lock, Frances A ^b   Thornborough, Christopher ^b   Eason, Jacqueline ^c   Setchfield, Kerry ^a   Ketley, Ami ^a   Kirk, Edwin P ^d,e   Fatkin, Diane ^d,f,g   Feneley, Michael P ^d,f,g   Harvey, Richard P ^d,f,g   Brook, J David ^a  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^b GLENFIELD HOSPITAL   (United Kingdom)

^c NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^d VICTOR CHANG CARDIAC RESEARCH INSTITUTE   (Australia)

^e SYDNEY CHILDREN'S HOSPITAL   (Australia)

^f UNIVERSITY OF NEW SOUTH WALES   (Australia)

^g ST VINCENT S HOSPITAL   (Australia)

Author keywords

Congenital Heart Disease; Multiple Heterozygosity; Mutations

Indexed keywords

TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR NKX2.5; TRANSCRIPTION FACTOR TBX5;

ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONGENITAL HEART DISEASE; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC SCREENING; HEART ATRIUM SEPTUM DEFECT; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOLT ORAM SYNDROME; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PATENT DUCTUS ARTERIOSUS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN STRUCTURE; SIGNAL TRANSDUCTION;

CARDIAC MYOSINS; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; GATA4 TRANSCRIPTION FACTOR; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEART DEFECTS, CONGENITAL; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; MYOSIN HEAVY CHAINS; POINT MUTATION; T-BOX DOMAIN PROTEINS; TRANSCRIPTION FACTORS;

EID: 84858838583     PISSN: 1747079X     EISSN: 17470803     Source Type: Journal    
DOI: 10.1111/j.1747-0803.2011.00573.x     Document Type: Article

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