A novel mutation of CLCNKB in a Japanese patient of Gitelman-like phenotype with diuretic insensitivity to thiazide administration.

Using linkage analyses of family members, highly significant associations were established between the genes encoding the thick ascending limb (TAL) transporter, SLC12A1 ( Simon et al., 1996a ), KCNJ1 ( Simon et al., 1996b ) and CLCNKB ( Simon et al., 1997 ) in Bartter syndrome, which were named as Bartter syndrome type I, type II and type III, respectively.

also in 132,142 other papers