Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease.

BACKGROUND: Dent's disease is an X-linked renal tubular disorder that is characterized by low molecular weight proteinuria, hypercalciuria, nephrolithiasis, and renal failure. The disease is caused by inactivation of a renal chloride channel gene, CLCN5, that encodes a 746-amino acid protein w...

সম্পূর্ণ বিবরণ

গ্রন্থ-পঞ্জীর বিবরন
প্রধান লেখক: Igarashi, T, Inatomi, J, Ohara, T, Kuwahara, T, Shimadzu, M, Thakker, R
বিন্যাস: Journal article
ভাষা:English
প্রকাশিত: 2000