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Fig. 4 | Pediatric Rheumatology

Fig. 4

From: Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib

Fig. 4

Pedigree of the family and Sanger sequencing results and identified mutations. a Pedigree of the family with FCL. The arrow indicates the proband, and the asterisks indicate family members who had genetic testing in this study. b, c Sanger sequencing results and identified mutations in pedigree. (b: TREX1 NM_016381; c.C227T; p.Ala76Val. c: TREX1 NM_016381; c.458dupA; p.Gln153fs3)

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