Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Eggermann, T; Spengler, S; Denecke, B; Zerres, K; Mache, CJ.
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.
Clin Nephrol. 2013; 79(1):78-80
Doi: 10.5414/CN106994
(- Case Report)
Web of Science
PubMed
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FullText_MUG
- Co-Autor*innen der Med Uni Graz
- Mache Christoph
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- Abstract:
- Xanthinuria Type I is caused by mutations in the xanthine dehydrogenase gene (XDH). We report on a patient suffering from xanthinuria. Genomic DNA was screened for point mutations and imbalances in the XDH gene by sequencing and microarray typing. We could identify homozygosity of a multiexon deletion in the XDH gene; large genomic imbalances have not yet been reported in this disease. As our case and other studies on genetic alterations in kidney diseases show, large deletions (and duplications) significantly contribute to the etiology of these entities, specific assays to discover these imbalances should therefore be included in genetic testing approaches.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Base Sequence -
- DNA - genetics
- Exons -
- Humans -
- Male -
- Metabolism, Inborn Errors - genetics Metabolism, Inborn Errors - urine
- Point Mutation -
- Sequence Deletion -
- Xanthine - urine
- Xanthine Dehydrogenase - deficiency Xanthine Dehydrogenase - genetics Xanthine Dehydrogenase - urine
- Find related publications in this database (Keywords)
- xanthinuria
- xanthine dehydrogenase gene (XCH)
- multiexon deletion