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

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...

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Asıl Yazarlar: Tsukaguchi, Hiroyasu, Sudhakar, Akulapalli, Le, Tu Cam, Nguyen, Trang, Yao, Jun, Schwimmer, Joshua A., Schachter, Asher D., Poch, Esteban, Abreu, Patricia F., Appel, Gerald B., Pereira, Aparecido B., Kalluri, Raghu, Pollak, Martin R.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Clinical Investigation 2002
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC151634/
https://ncbi.nlm.nih.gov/pubmed/12464671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI16242
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