Genetic analysis of GATA4. (A) Schematic representation of GATA4 (genomic, mRNA and protein level). Reference sequence for GATA4 was based on NM_002052 and the intron-exon boundaries on . (B) Examples of 3'-UTR mutations and genotypes obtained after direct sequencing of fragments amplified from diseased cardiac tissues of patients affected by CHD. Additional sequence alterations in the 3'- UTR of GATA4 were detected, e.g. F24ASD (c.+281G>A).