Figure 1 | Scientific Reports

Figure 1

From: Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification

Figure 1

Family tree including Case 1 and CT images of Case 1 proband and his family members, CT images of Case 2, Case 3, Case 4 and Case 5, and schematic representation of SLC20A2 variants in this study. (a) Family tree of Case 1. The ages at which CT scan was taken are shown under symbols. (b) CT images of Case 1 proband and his spouse, daughter, and son. (c) CT images of Case 2. (d) CT images of Case 3 (CT images of a son of the proband). (e) CT images of Case 4. (f) CT images of Case 5. (g) Four variants in exon 2 (c.82G > A, p.D28N), exon 3 (c.358G > C, p.G120R), exon 6 (c.680C > T, p.A227V), and exon 8 (c.1487G > A, p.C496Y) were examined for their functional effects in this study.

Back to article page