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Titel:

A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease.

Dokumenttyp:
Case Reports; Journal Article; Article
Autor(en):
Satanovskij, Robin; Bader, Alhaddad; Block, Matthias; Herbst, Victor; Schlumberger, Wolfgang; Haack, Tobias; Nockher, Wolfgang Andreas; Heemann, Uwe; Renders, Lutz; Schmaderer, Christoph; Angermann, Susanne; Wen, Ming; Meitinger, Thomas; Scherberich, Jürgen; Steubl, Dominik
Abstract:
Uromodulin-associated Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD-UMOD) belongs to a group of autosomal dominant inherited diseases caused by mutations in the UMOD gene, which codes for uromodulin, a protein exclusively expressed in renal tubular cells of the ascending limb of the loop of Henle. The diagnosis is hampered by non-specific clinical, laboratory and histological findings. In this study, we evaluated serum uromodulin as diagnostic marker for ADTKD-UMOD in a family with...     »
Zeitschriftentitel:
Clin Biochem
Jahr:
2017
Band / Volume:
50
Heft / Issue:
3
Seitenangaben Beitrag:
155-158
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.clinbiochem.2016.10.003
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/27729211
Print-ISSN:
0009-9120
TUM Einrichtung:
Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik
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