Mutational analysis of phospholipase C epsilon 1 gene in Egyptian children with steroid-resistant nephrotic syndrome

Mutational analysis of phospholipase C epsilon 1 gene in Egyptian children with steroid-resistant nephrotic syndrome

Abstract Background Steroid-resistant nephrotic syndrome (SRNS) is characterized by unresponsiveness of nephrotic range proteinuria to standard steroid therapy, and is the main cause of childhood renal failure. The identification of more than 53 monogenic causes of SRNS has led researchers to focus...

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Bibliographic Details
Main Authors: Mohammed Abdou, Abeer Ramadan, Basma E. El-Agamy, Mohamed S. EL-Farsy, Eman M. Saleh
Format: Article
Language:English
Published: SpringerOpen 2022-11-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Nephrotic syndrome (NS)
Phospholipase C epsilon 1 (PLCE1)
Steroid-resistant nephrotic syndrome (SRNS)
Nonsynonymous single nucleotide polymorphism (nsSNP)
Synonymous single nucleotide polymorphism (sSNP)
Online Access:https://doi.org/10.1186/s43042-022-00353-2

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