Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tub...
Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease
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Brazil: Associacao Brasileira de Divulgacao Cientifica (ABDC)
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Language
English
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Publisher
Brazil: Associacao Brasileira de Divulgacao Cientifica (ABDC)
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Contents
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confirmed case of a multi-generational Brazilian f...
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Full title
Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease
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TN_cdi_doaj_primary_oai_doaj_org_article_e3a8252837b24059955b8e889357ce39
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e3a8252837b24059955b8e889357ce39
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ISSN
0100-879X,1414-431X
E-ISSN
1414-431X
DOI
10.1590/1414-431x20176560
