Article
CLCNKB-T481S and essential hypertension in a Ghanaian population.
Journal of hypertension - 1 Feb 2009
Sile Saba, Velez Digna R, Gillani Niloufar B, Narsia Tinatin, Moore Jason H, George Alfred L, Vanoye Carlos G, Williams Scott M
Abstract excerpt
OBJECTIVE: Prior to the discovery of chloride channel Kb with a variant threonine change to serine at position 481 (CLCNKB-T481S) there were no variants or clinical disorders associated with gain-of-function defects in thick ascending limb of the kidney channels or transporters. CLCNKB-T481S is a novel gain-of-function variant that has been associated with essential hypertension. This finding has not been...
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