Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type Kunihiko Aya, Hiroyuki Tanaka, Yoshiki.

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Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type Kunihiko Aya, Hiroyuki Tanaka, Yoshiki Seino Kidney International Volume 57, Issue 2, Pages 401-404 (October 2000) DOI: 10.1046/j.1523-1755.2000.00859.x Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 1 Expression of nephrin mRNA. The enucleated tumor kidney (A) and renal biopsy (B and C) samples were used for RT-PCR. (D) HaeIII digest of ØX174 Rf DNA. Products were derived from nephrin mRNA (994 bp). Kidney International 2000 57, 401-404DOI: (10.1046/j.1523-1755.2000.00859.x) Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 2 Analysis of nephrin gene exon 11. Automated DNA sequence analysis of the 465bp PCR products from exon 11 of the proband, showing a novel homozygous point mutation at codon 447 (GAG to AAG/Glu to Lys), the unaffected mother, showing a heterozygous point mutation, and the second brother, showing no mutation. The forward sequence in upper panel and the reverse sequence in lower panel are shown. Kidney International 2000 57, 401-404DOI: (10.1046/j.1523-1755.2000.00859.x) Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 3 Analysis of nephrin gene exon 18. Automated DNA sequence analysis of the 347bp PCR products from exon 18 of the proband, showing a novel homozygous point mutation at codon 819 (GAC to GTC/Asp to Val), the unaffected mother, showing a heterozygous point mutation, and the second brother, showing no mutation. The forward sequence in upper panel and the reverse sequence in lower panel are shown. Kidney International 2000 57, 401-404DOI: (10.1046/j.1523-1755.2000.00859.x) Copyright © 2000 International Society of Nephrology Terms and Conditions