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Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm
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 supports th...
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| Publicado no: | BMC Nephrol |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6704575/ https://ncbi.nlm.nih.gov/pubmed/31438875 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-019-1474-z |
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