Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm
Abstract Background Proteinuria is a common clinical presentation, the diagnostic workup for which involves many non-invasive and invasive investigations. We report on two siblings that highlight the clinically relevant functional role of cubulin for albumin resorption in the proximal tubule and sup...
Main Authors: | Kushani Jayasinghe, Susan M. White, Peter G. Kerr, Duncan MacGregor, Zornitza Stark, Ella Wilkins, Cas Simons, Andrew Mallett, Catherine Quinlan |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-08-01
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Series: | BMC Nephrology |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12882-019-1474-z |
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