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Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation
BACKGROUND: Mutations in podocin (NPHS2) are the most common cause of childhood onset autosomal recessive steroid-resistant nephrotic syndrome (SRNS). The disease is characterized by early-onset proteinuria, resistance to immunosuppressive therapy and rapid progression to end-stage renal disease. Co...
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| Опубликовано в: : | Clin Kidney J |
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| Главные авторы: | , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Oxford University Press
2015
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4581382/ https://ncbi.nlm.nih.gov/pubmed/26413278 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ckj/sfv063 |
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