Fig. 5From: Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children – a case report with a reviewMolecular genetic analysis (a) Schematic presentation of SH2D1A gene position on chrXq25 and reported variant c.138-3C>G/p.Arg47GlyfsTer34 in Intron-1 of SH2D1A gene. (b) Sequence chromatogram of mother (Heterozygous c.138-3C>G/p.Arg47GlyfsTer34 in Intron-1 of SH2D1A gene. (c) Sequence chromatogram of younger sister (Heterozygous c.138-3C>G/p.Arg47GlyfsTer34 in Intron-1 of SH2D1A geneBack to article page