Fig. 3From: Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case reportWhole-exome sequencing identified mutation in the proband, his older sister, and his parents. The identified point mutation in exon 15 of the ELN, generated a stop codon (c.757 C > T (p.Gln253Ter), NM_000501.4)Back to article page