Fig. 3From: Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)Sanger sequence of the proband’s peripheral lymphocytes showing PMS2 mutation NM_000535.5:c.1500del (p.Val501TrpfsTer94) in exon 11. Arrow points to homozygous loss of cytosine at the 1500 frameBack to article page