Homozygosity for uromodulin disorders: FJHN and MCKD-type 2

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Homozygosity for uromodulin disorders: FJHN and MCKD-type 2 Wânia Rezende-Lima, Kleber S. Parreira, Miguel García-González, E.V.A. Riveira, Julio F. Banet, Xosé M. Lens Kidney International Volume 66, Issue 2, Pages 558-563 (August 2004) DOI: 10.1111/j.1523-1755.2004.00774.x Copyright © 2004 International Society of Nephrology Terms and Conditions

Figure 1 Pedigree of the family with medullary cystic kidney disease type 2 (MCKD2). Haplotypes for polymorphic markers are shown. The disease-associated haplotype is shadowed. Arrows, homozygous individuals. Kidney International 2004 66, 558-563DOI: (10.1111/j.1523-1755.2004.00774.x) Copyright © 2004 International Society of Nephrology Terms and Conditions

Figure 2 UMOD gene: exon 4 sequence showing heterozygosity and homozygosity for 764G >A. Kidney International 2004 66, 558-563DOI: (10.1111/j.1523-1755.2004.00774.x) Copyright © 2004 International Society of Nephrology Terms and Conditions

Figure 3 Detection of urinary excretion of uromodulin by Western blot. Heterozygote for C255Y mutation with normal renal function is shown in band 1. Control individual with normal renal function is shown in band 2. Purified uromodulin is shown in band 3. Kidney International 2004 66, 558-563DOI: (10.1111/j.1523-1755.2004.00774.x) Copyright © 2004 International Society of Nephrology Terms and Conditions