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Fig. 2 | BMC Pediatrics

Fig. 2

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

Fig. 2

Molecular genetic analysis (a) Schematic presentation of PRF1 gene position on chr10q22.1 and reported homozygous variant c.386G>C/p.Trp129Ser in PRF1 gene (b) Sequence chromatogram of mother (Heterozygous c.386G>C/p.Trp129Ser in PRF1 gene) (c) Sequence chromatogram of Father (Heterozygous c.386G>C/p.Trp129Ser in PRF1 gene) (d) Sequence chromatogram of fetus (Heterozygous c.386G>C/p.Trp129Ser in PRF1 gene)

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