Article

NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele

2002-12-01

Abstract excerpt

Mutations in NPHS2, encoding podocin, have been identified in childhood onset focal and segmental glomerulosclerosis (FSGS).The role of NPHS2 in adult disease is less well defined.We studied 30 families with FSGS and apparent autosomal recessive inheritance and 91 individuals with primary FSGS.We screened family members for NPHS2 mutations.NPHS2 mutations appeared to be responsible for disease in nine of these fam...

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Literature Corpus work: b3c7209a-4209-58e4-89ec-ff6a85c1697d
DOI: 10.1172/jci0216242

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