A mutation in the Kozak sequence of GATA4 hampers translation in a family with atrial septal defects

American Journal of Medical Genetics, Part A

Volumn 164, Issue 11, 2014, Pages 2732-2738

  Mohan, Rajiv A ^a   van Engelen, Klaartje ^a   Stefanovic, Sonia ^a   Barnett, Phil ^a   Ilgun, Aho ^a   Baars, Marieke J H ^a   Bouma, Berto J ^a   Mulder, Barbara J M ^a   Christoffels, Vincent M ^a   Postma, Alex V ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Atrial septal defects; Congenital heart defects; GATA4 protein; Kozak sequence

Indexed keywords

TRANSCRIPTION FACTOR GATA 4;

5' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN REGULATION; EXON; FAMILY ASSESSMENT; FEMALE; GATA4 GENE; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GENETIC SCREENING; GENETIC TRANSCRIPTION; HEART ATRIUM SEPTUM DEFECT; HUMAN; HUMAN CELL; INTRON; MALE; MIDDLE AGED; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SITE DIRECTED MUTAGENESIS; TRANSACTIVATION; TRANSLATION REGULATION; VERY ELDERLY; YOUNG ADULT; ADOLESCENT; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; GENETICS; GENOTYPE; HEART SEPTAL DEFECTS, ATRIAL; METABOLISM; MUTATION; NUCLEOTIDE MOTIF; PROTEIN SYNTHESIS; TRANSCRIPTION INITIATION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; FEMALE; GATA4 TRANSCRIPTION FACTOR; GENOTYPE; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE MOTIFS; PROMOTER REGIONS, GENETIC; PROTEIN BIOSYNTHESIS; TRANSCRIPTIONAL ACTIVATION; YOUNG ADULT;

EID: 84911448140     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36703     Document Type: Article

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