High-Throughput Splicing Assays Identify Known and Novel WT1 Exon 9 Variants in Nephrotic Syndrome

INTRODUCTION: Frasier syndrome (FS) is a rare Mendelian form of nephrotic syndrome (NS) caused by variants which disrupt the proper splicing of WT1. This key transcription factor gene is alternatively spliced at exon 9 to produce 2 isoforms (“KTS+” and “KTS−”), which are normally expressed in the ki...

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Detalles Bibliográficos
Autores principales: Smith, Cathy, Burugula, Bala Bharathi, Dunn, Ian, Aradhya, Swaroop, Kitzman, Jacob O., Yee, Jennifer Lai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Translational Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10577367/
https://www.ncbi.nlm.nih.gov/pubmed/37850022
http://dx.doi.org/10.1016/j.ekir.2023.07.033

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10577367/
https://www.ncbi.nlm.nih.gov/pubmed/37850022
http://dx.doi.org/10.1016/j.ekir.2023.07.033

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