Fig. 3From: A Chinese case of Nakajo–Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 geneGene sequencing results. Sanger screening revealed a heterozygous c.373C > T (p.R125C) mutation a and c.355G > A (p.D119N) mutation b in exon 3 of the PSMB8 gene in the patient, a heterozygous c.373C > T (p.R125C) mutation in his mother and a c.355G > A (p.D119N) mutation in his fatherBack to article page