Article
Identification of mutations in FN1 leading to glomerulopathy with fibronectin deposits.
Pediatric nephrology (Berlin, Germany) - 1 Sept 2016
Ohtsubo Hiromi, Okada Taro, Nozu Kandai, Takaoka Yutaka, Shono Akemi, Asanuma Katsuhiko, Zhang Lifang, Nakanishi Koichi, Taniguchi-Ikeda Mariko, Kaito Hiroshi, Iijima Kazumoto, Nakamura Shun-Ichi
Abstract excerpt
BACKGROUND: Glomerulopathy with fibronectin deposits (GFND) is a rare autosomal dominant disease characterized by massive fibronectin deposits, leading to end-stage renal failure. Although mutations within the heparin-binding domains of the fibronectin 1 gene (FN1) have been associated with GFND, no mutations have been reported within the integrin-binding domains. METHODS: In this study, FN1 mutational analysis...
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