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Novel mutation in Wilms’ tumour 1 gene associated with steroid-resistant nephrotic syndrome
We report the case of a paediatric patient with steroid-resistant nephrotic syndrome due to a novel dominant Wilms’ tumour 1 mutation. The nucleotide change C1184A, identified in exon 9, results in amino acid substitution Ser395Tyr. Genotyping of parents and healthy controls indicated that this is a...
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| Publicat a: | NDT Plus |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2011
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4421628/ https://ncbi.nlm.nih.gov/pubmed/25984092 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ndtplus/sfq173 |
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