Article
Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.
Kidney international - 1 Dec 1998
Igarashi T, Günther W, Sekine T, Inatomi J, Shiraga H, Takahashi S, Suzuki J, Tsuru N, Yanagihara T, Shimazu M, Jentsch T J, Thakker R V
Abstract excerpt
BACKGROUND: 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, and this represents a variant of Dent's disease. Hitherto, 12 mutation...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Animals
- Calcium
- Child
- Chloride Channels
- DNA
- Female
- Humans
- Kidney Calculi
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Oocytes
- Pedigree
- Proteinuria