Autosomal dominant tubulointerstitial kidney disease with a novel heterozygous missense mutation in the uromodulin gene: A case report

Figure 5 Genomic DNA sequence electropherograms for the proband, affected family members, and normal DNA. The arrow corresponds to a G>T transversion at position 554 of the uromodulin in chr16 (GenBank accession number NM_003361.3). This mutation was heterozygous in the proband, his daughter, his aunt, and his younger female cousin, respectively.