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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report

Fig. 2

Two-generation pedigree analysis for two heterozygous mutations in the UNC13D gene. a Novel nonsense mutation (c.2206C > T) in UNC13D-exon24; b Reported splicing mutation (c.2709 + 1G > A) in UNC13D-exon28. The position of the mutation is marked with a red arrow. The results showed that the nonsense mutation was inherited from father and the splicing mutation was inherited from mother. Zygosity was indicated by letters of degenerate bases (Y: C/T, R: A/G)

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BMC Medical Genetics

ISSN: 1471-2350

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