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Fig. 5 | BMC Pediatrics

Fig. 5

From: Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children – a case report with a review

Fig. 5

Molecular 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 gene

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