Autosomal Dominant Tubulointerstitial Kidney Disease—Uromodulin Misclassified as Focal Segmental Glomerulosclerosis or Hereditary Glomerular Disease

INTRODUCTION: Focal segmental glomerulosclerosis (FSGS) is a histopathologically defined kidney lesion. FSGS can be observed with various underlying causes, including highly penetrant monogenic renal disease. We recently identified pathogenic variants of UMOD, a gene encoding the tubular protein uro...

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Detalhes bibliográficos
Publicado no:Kidney Int Rep
Main Authors: Chun, Justin, Wang, Minxian, Wilkins, Maris S., Knob, Andrea U., Benjamin, Ava, Bu, Lihong, Pollak, Martin R.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Translational Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7136358/
https://ncbi.nlm.nih.gov/pubmed/32274456
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ekir.2019.12.016
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