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. 2019 Jul 2;10:628. doi: 10.3389/fgene.2019.00628

Figure 3.

Figure 3

(A) Pedigree of a three-generation family with AS. Arrow indicates the proband. The proband, her brother, and her sister were heterozygous (het). For the novel pathogenic variant, whereas the mother was homozygous (hom). The shapes filled with black indicate patients affected with hematuria. (B) Sequencing results of the c.4599T > G (p.Tyr1533Ter) variant at the 47th exon of the COL4A4 gene of the proband (II:3) (left panel) and her mother (I:2) (right panel).