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. 2013 Jun 24;33(4):293–296. doi: 10.3343/alm.2013.33.4.293

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© The Korean Society for Laboratory Medicine.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Fig. 1 — Pedigree and sequence analysis data from a Korean family with juvenile hyperuricemic nephropathy (FJHN). (A) Pedigree of the family. The proband is indicated by an arrow. Open symbols indicate no signs or symptoms of FJHN. Filled symbols represent affected individuals and deceased individual is crossed. Genotypes are shown for the individuals with FJHN. (B) Sequence analysis of the UMOD revealed that the proband, his father, and his elder brother were heterozygous for a novel mutation in the UMOD. The arrow indicates the overlapping peaks at nucleotide position 187, due to a heterozygous T>C substitution (c.187T>C; p.Cys63Arg).