R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease

Journal of Cardiovascular Medicine

Volumn 14, Issue 8, 2013, Pages 582-586

  Beffagna, Giorgia ^a   Cecchetto, Antonella ^b   Dal Bianco, Lucia ^b   Lorenzon, Alessandra ^a   Angelini, Annalisa ^a   Padalino, Massimo ^b   Vida, Vladimiro ^b   Bhattacharya, Shoumo ^c   Stellin, Giovanni ^b   Rampazzo, Alessandra ^a   Daliento, Luciano ^b  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Congenital heart disease; Embryonic cardiac development; Mutation; NKX2.5 gene

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR NKX2.5;

ADULT; AGED; AORTA COARCTATION; ARTICLE; BICUSPID AORTIC VALVE; CHROMOSOME ANALYSIS; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE PREDISPOSITION; DNA FLANKING REGION; DNA SEQUENCE; DOWN SYNDROME; ECHOCARDIOGRAPHY; EXON; GENOTYPE PHENOTYPE CORRELATION; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATENT DUCTUS ARTERIOSUS; PERCUTANEOUS TRANSLUMINAL ANGIOPLASTY; PERSISTENT LEFT SUPERIOR VENA CAVA; PREVALENCE; PROTEIN LOCALIZATION; RNA SPLICING; THYROID DYSGENESIS;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; ANIMALS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DOGS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HEART DEFECTS, CONGENITAL; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MICE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RATS; SEQUENCE ALIGNMENT; SYNDROME; TRANSCRIPTION FACTORS;

EID: 84880073196     PISSN: 15582027     EISSN: 15582035     Source Type: Journal    
DOI: 10.2459/JCM.0b013e328356a326     Document Type: Article

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