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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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2017
Assuntos:
Diagnostics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5740557/
https://ncbi.nlm.nih.gov/pubmed/28780565
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2017-104811
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