A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomaldominant inherited congenital heart disease

Clinical Research in Cardiology

Volumn 97, Issue 1, 2008, Pages 39-42

  Pabst, S ^a   Wollnik, B ^b   Rohmann, E ^b   Hintz, Y ^a   Glanzer K ^a   Vetter, H ^a   Nickenig, G ^a   Grohé, Christian ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

Author keywords

AV conduction block; Congenital heart disease; Mutation; NKX2 5

Indexed keywords

AMINO ACID; TRANSCRIPTION FACTOR NKX2.5;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME ANALYSIS; CODON; CONGENITAL HEART DISEASE; DISEASE ASSOCIATION; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOSITY; HUMAN; NERVE BLOCK; PATENT FORAMEN OVALE; PHENOTYPE; PROMOTER REGION; PULMONARY ARTERY STENOSIS;

ADULT; CHILD; CODON, TERMINATOR; EXONS; FEMALE; FORAMEN OVALE, PATENT; GENES, DOMINANT; HAPLOIDY; HEART BLOCK; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, ATRIAL; HEART SEPTAL DEFECTS, VENTRICULAR; HOMEODOMAIN PROTEINS; HUMANS; MIDDLE AGED; MUTATION; PULMONARY VALVE STENOSIS; TRANSCRIPTION FACTORS;

EID: 38149012385     PISSN: 18610684     EISSN: 18610692     Source Type: Journal    
DOI: 10.1007/s00392-007-0574-0     Document Type: Article

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