Title : Does NPHS1 polymorphism modulate P118l mutation in NPHS2?

Pub. Date : 2013 Nov

PMID : 24231487






1 Functional Relationships(s)
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1 We report a child aged 4 months with steroid-resistant NS who had polymorphism of NPHS1 (E117K) and mutation of NPHS2 (P118L). Steroids NPHS2 stomatin family member, podocin Homo sapiens