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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema

Fig. 1

The genetic and clinical information of a family with HAE. (A) HAE pedigree map: the black arrow points to the proband, the circle represents the female, the square represents the male, the blackened represents suffering from HAE, and there is a diagonal line on the figure indicating died. (B) Sanger sequencing results for the SERPING1 c.708T > G mutation; (C) Concentrations of C1-INH and C4 in peripheral blood of HAE pedigree. a: C1-INH plasma level of HAE patients in the pedigree by ELISA; b: C1-INH plasma level of normal subjects in the pedigree by ELISA; c: C4 plasma level of HAE patients in the pedigree; d: C4 plasma level of unaffected subjects in the pedigree

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172