Article
NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome.
Indian pediatrics - 1 Mar 2012
Vasudevan Anil, Siji Annes, Raghavendra Ashwini, Sridhar T S, Phadke Kishore D
Abstract excerpt
We examined the frequency and spectrum of podocin NPHS2 mutations in Indian children with sporadic steroid resistant nephrotic syndrome (SRNS). Of 25 children screened, only one (4%) had a pathogenic mutation resulting in a stop codon. The allele and genotype frequencies of the four known single nucleotide polymorphisms detected in the cohort were similar to that of controls. This finding emphasizes the need to...
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