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- Title
Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.
- Authors
Aya, K; Tanaka, H; Seino, Y
- Abstract
Congenital nephrotic syndrome (CNS) of the Finnish type is a rare autosomal-recessive disorder. Kestila et al reported that a positionally cloned gene for a novel glomerular protein nephrin is mutated in CNS. Most Finnish patients have one of two mutations. In this study, we described a Japanese CNS family associated with a novel missense point mutation in the nephrin gene.
- Publication
Kidney international, 2000, Vol 57, Issue 2, p401
- ISSN
0085-2538
- Publication type
Journal Article
- DOI
10.1046/j.1523-1755.2000.00859.x