Article
Pathogenesis of nephrogenic diabetes insipidus by aquaporin-2 C-terminus mutations.
Kidney international - 1 Jul 2003
Asai Tomoki, Kuwahara Michio, Kurihara Hidetake, Sakai Tatsuo, Terada Yoshio, Marumo Fumiaki, Sasaki Sei
Abstract excerpt
BACKGROUND: We previously reported three aquaporin-2 (AQP2) gene mutations known to cause autosomal-dominant nephrogenic diabetes insipidus (NDI) (Am J Hum Genet 69:738, 2001). The mutations were found in the C-terminus of AQP2 (721delG, 763 to 772del, and 812 to 818del). The wild-type AQP2 is a 271 amino acid protein, whereas these mutant genes were predicted to encode 330 to 333 amino acid proteins due to the...
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