Figure 1
From: Impaired NEPHRIN localization in kidney organoids derived from nephrotic patient iPS cells

Identification of NPHS1 mutations in two nephrotic patients. (a,b) Mutations in the NPHS1 gene and NEPHRIN protein in Patient 1 (biallelic frameshift mutations). (c,d) Mutations in the NPHS1 gene and NEPHRIN protein in Patient 3 (missense mutation and frameshift mutation). Ig: immunoglobulin-like domain; FN: fibronectin-like domain. The mutations on the two alleles are shown in one scheme.