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Article

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

American journal of medical genetics. Part A - 1 Nov 2014

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

Abstract excerpt

Atrial septal defect (ASD) is the most common congenital heart defect clinically characterized by an opening in the atrial septum. Mutations in GATA4, TBX5, and NKX2-5 underlie this phenotype. Here, we report on the identification of a novel -6 G>C mutation in the highly conserved Kozak sequence in the 5'UTR of GATA4 in a small family presenting with two different forms of ASD. This is the first time a mutation...

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Share to DNA Mutational Analysis
Share to Electrocardiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GATA4 Transcription Factor

Share to Heart Septal Defects, Atrial

Share to Nucleotide Motifs

Share to Promoter Regions, Genetic

Share to Protein Biosynthesis

Share to Transcriptional Activation

Source

Identifiers

PMID: 25099673
DOI: 10.1002/ajmg.a.36703

Genes

GATA4
TBX5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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