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Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations

BACKGROUND: There are many single-gene causes of steroid-resistant nephrotic syndrome (SRNS) and the list continues to grow rapidly. Prompt comprehensive diagnostic testing is key to realising the clinical benefits of a genetic diagnosis. This report describes a bespoke-designed, targeted next-gener...

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Detalles Bibliográficos
Autores principales:	Sen, Ethan S, Dean, Philip, Yarram-Smith, Laura, Bierzynska, Agnieszka, Woodward, Geoff, Buxton, Chris, Dennis, Gemma, Welsh, Gavin I, Williams, Maggie, Saleem, Moin A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2017
Materias:	Diagnostics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740557/ https://www.ncbi.nlm.nih.gov/pubmed/28780565 http://dx.doi.org/10.1136/jmedgenet-2017-104811

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