Fig. 1
From: NKX2.1-Related Disorders: a novel mutation with mild clinical presentation
Chromatograms obtained from the genetic analysis of the patient and of his parents. Family tree with the corresponding chromatograms of NKX2.1 exon 2 showing c.390C > G:p. (Tyr130Term) mutation (arrow): the father and mother are homozygous for the wild-type nucleotide (upper panels, sense strand), the proband is heterozygous for the mutation (bottom panels, sense and antisense strands)