Article
Generation and analysis of pseudohypoaldosteronism type II knock-in mice caused by a nonsense KLHL3 mutation in the Kelch domain.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Jun 2022
Lin Chien-Ming, Sung Chih-Chien, Yang Sung-Sen, Chen Ying-Chuan, Huang Shih-Ming, Lin Shih-Hua
Abstract excerpt
Mutations in the Kelch-like 3 (KLHL3) gene are the most common cause of inherited pseudohypoaldosteronism type II (PHAII) featuring thiazide-sensitive hypertension and hyperkalemic metabolic acidosis. Although Klhl3R528H/+ knock-in (KI) mice carrying a missense mutation in the Kelch repeat domain have been reported, nonsense KLHL3 mutations in the same domain that cause PHAII have not been fully investigated in...
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