Molecular Genetic Analysis of Steroid Resistant Nephrotic Syndrome, Detection of a Novel Mutation.

CONCLUSION: It seems that NPHS2, especially exons 4 and 5, should be considered as the first step in genetic evaluation of Iranian patients. We suggest conducting WES after NPHS2 screening to identify the potential genes associated with SRNS, Further studies are required to examine more common genes in the first step and then designing native laboratory panels. PMID: 31209189 [PubMed - in process]
Source: Iranian Journal of Kidney Diseases - Category: Urology & Nephrology Tags: Iran J Kidney Dis Source Type: research