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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Detalles Bibliográficos
Autores principales: Beltcheva, Olga, Boueva, Anelia, Morgunova, Ekaterina, Boiadjieva, Emilia, Marinova, Svetlana, Kaneva, Radka, Mitev, Vanio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421628/
https://www.ncbi.nlm.nih.gov/pubmed/25984092
http://dx.doi.org/10.1093/ndtplus/sfq173

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