Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis.

The annual urinary screening of Japanese children above three years of age has identified a progressive renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. The disorder has been observed in over 60 patients and has a familial predisposition....

詳細記述

書誌詳細
主要な著者: Akuta, N, Lloyd, SE, Igarashi, T, Shiraga, H, Matsuyama, T, Yokoro, S, Cox, J, Thakker, R
フォーマット: Journal article
言語:English
出版事項: 1997