Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease

Clinical Genetics

Volumn 78, Issue 6, 2010, Pages 533-540

  Stallmeyer, B ^a,b   Fenge, H ^c   Nowak Gottl U ^d   Schulze Bahr, E ^a,b,d  

^a Genetics of Heart Diseases   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c Obere Hauptstr 15   (Germany)

^d UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Cardiac development; Congenital heart disease; CSX; NKX2.5

Indexed keywords

TRANSCRIPTION FACTOR NKX2.5;

ADOLESCENT; ADULT; AORTA ARCH INTERRUPTION; ARTICLE; ATRIOVENTRICULAR BLOCK; CARBOXY TERMINAL SEQUENCE; CHILD; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DAUGHTER; DISEASE ASSOCIATION; FAMILIAL DISEASE; FRAMESHIFT MUTATION; GENETIC SCREENING; GERM LINE; GREAT VESSELS TRANSPOSITION; HEART ATRIUM SEPTUM DEFECT; HEART DEVELOPMENT; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HYPOPLASTIC LEFT HEART SYNDROME; INFANT; ISOLATED HEART ATRIUM SEPTUM DEFECT; ISOLATED HEART VENTRICLE SEPTUM DEFECT; ISOLATED PULMONARY VALVE STENOSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOTHER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY VALVE ATRESIA; PULMONARY VALVE STENOSIS; SCHOOL CHILD; TRICUSPID VALVE ATRESIA;

ADULT; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, ATRIAL; HEART SEPTAL DEFECTS, VENTRICULAR; HOMEODOMAIN PROTEINS; HUMANS; MIDDLE AGED; MUTATION; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 78149237904     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01422.x     Document Type: Article

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