Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects

Molecular Medicine Reports

Volumn 10, Issue 2, 2014, Pages 743-748

  Wang, Xike ^a,b   Ji, Wei ^a   Wang, Jian ^a   Zhao, Pengjun ^a   Guo, Ying ^a   Xu, Rang ^a   Chen, Sun ^a   Sun, Kun ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b GUIZHOU PROVINCIAL PEOPLE'S HOSPITAL   (China)

Author keywords

Congenital heart disease; GATA6; Genetic mutation; Nonsyndromic conotruncal heart defects; Transcription factor

Indexed keywords

ARGININE; ASPARAGINE; GLYCINE; TRANSCRIPTION FACTOR GATA 6;

ADOLESCENT; AORTA ARCH INTERRUPTION; ARTICLE; ATRIOVENTRICULAR SEPTAL DEFECT; CHILD; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; E51K GENE; EXON; FALLOT TETRALOGY; FEMALE; G245R GENE; GENE; GENETIC COUNSELING; GREAT VESSELS TRANSPOSITION; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSYNDROMIC CONOTRUNCAL HEART DEFECT; NUCLEAR LOCALIZATION SIGNAL; PATENT DUCTUS ARTERIOSUS; PATHOGENESIS; POLYMERASE CHAIN REACTION; PULMONARY VALVE ATRESIA; S184N GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION FACTOR GATA 6 GENE; TRANSCRIPTION INITIATION; ZINC FINGER MOTIF; AMINO ACID SEQUENCE; GENE FREQUENCY; GENETICS; HETEROZYGOTE; KARYOTYPING; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; TRISOMY;

ADOLESCENT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GATA6 TRANSCRIPTION FACTOR; GENE FREQUENCY; HEART DEFECTS, CONGENITAL; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; KARYOTYPING; MALE; MUTATION, MISSENSE; PEDIGREE; TRISOMY;

EID: 84903273005     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr.2014.2247     Document Type: Article

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