Volume 67, Issue 4, Pages (April 2005)

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Volume 67, Issue 4, Pages 1248-1255 (April 2005) Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome Mayumi Sako, Koichi Nakanishi, Mina Obana, Nahoko Yata, Sakurako Hoshii, Shori Takahashi, Naohiro Wada, Yasuhiko Takahashi, Yoshitsugu Kaku, Kenichi Satomura, Masahiro Ikeda, Masataka Honda, Kazumoto Iijima, Norishige Yoshikawa Kidney International Volume 67, Issue 4, Pages 1248-1255 (April 2005) DOI: 10.1111/j.1523-1755.2005.00202.x Copyright © 2005 International Society of Nephrology Terms and Conditions

Figure 1 Detection of NPHS1 and NPHS2 mutations by direct sequencing. (A) A novel nonsense mutation of NPHS1, E246X (736G>T in exon 7), in patient 1. (B) A novel homozygous deletion mutation of NPHS1, 2156_2163del, in exon 16 in patient 2. (C) A heterozygous missense mutation of NPHS1, R460Q (1379G>A in exon 11), in patient 3. (D) A novel heterozygous missense mutation of NPHS1, D105N (313G>A in exon 3), in patient 4. (E) A novel homozygous nonsense mutation of NPHS2, R196X (586C>T in exon5), in patient 5. (F) The R196X nonsense mutation of NPHS2 found in patient 5 is heterozygous in patient 6. Kidney International 2005 67, 1248-1255DOI: (10.1111/j.1523-1755.2005.00202.x) Copyright © 2005 International Society of Nephrology Terms and Conditions