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A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review

Autosomal dominant tubulointerstitial kidney disease caused by mutations in uromodulin gene (ADTKD-UMOD) is a spectrum of hereditary renal disorders, characterized by early-onset hyperuricemia, gout and progressive nephropathy. This study presented a novel UMOD mutation in an ADTKD pedigree and revi...

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Detalles Bibliográficos
Autores principales:	Lin, Ziqiang, Yang, Juan, Liu, Hong, Cai, Dan, An, Zhenmei, Yu, Yerong, Chen, Tao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Taylor & Francis 2018
Materias:	Clinical Study
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014484/ https://www.ncbi.nlm.nih.gov/pubmed/29569962 http://dx.doi.org/10.1080/0886022X.2018.1450757

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