Screening of WT1 mutations in exon 8 and 9 in children with steroid resistant nephrotic syndrome from a single centre and establishment of a rapid screening assay using high-resolution melting analysis in a clinical setting

BACKGROUND: Mutations in Wilm’s tumor 1 (WT1) gene is one of the commonly reported genetic mutations in children with steroid resistant nephrotic syndrome (SRNS). We report the results of direct sequencing of exons 8 and 9 of WT1 gene in 100 children with SRNS from a single centre. We standardized a...

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Detalles Bibliográficos
Autores principales: Siji, Annes, Pardeshi, Varsha Chhotusing, Ravindran, Shilpa, Vasudevan, Ambily, Vasudevan, Anil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Technical Advance
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223455/
https://www.ncbi.nlm.nih.gov/pubmed/28068926
http://dx.doi.org/10.1186/s12881-016-0362-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223455/
https://www.ncbi.nlm.nih.gov/pubmed/28068926
http://dx.doi.org/10.1186/s12881-016-0362-7

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