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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Detalles Bibliográficos
Autores principales: Chun, Justin, Wang, Minxian, Wilkins, Maris S., Knob, Andrea U., Benjamin, Ava, Bu, Lihong, Pollak, Martin R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Translational Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136358/
https://www.ncbi.nlm.nih.gov/pubmed/32274456
http://dx.doi.org/10.1016/j.ekir.2019.12.016

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136358/
https://www.ncbi.nlm.nih.gov/pubmed/32274456
http://dx.doi.org/10.1016/j.ekir.2019.12.016

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