NPHS2 Mutations in Indian Children with Sporadic Early Steroid Resistant Nephrotic Syndrome.
Indian Pediatr
;
2012 March; 49(3): 231-233
Article
in English
| IMSEAR
| ID: sea-169253
ABSTRACT
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 screen for mutations in other genes involved in the pathogenesis of SRNS.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Language:
English
Journal:
Indian Pediatr
Year:
2012
Type:
Article
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