1A.01: MUTATIONS AFFECTING THE CONSERVED ACIDIC MOTIF OF WNK1 CAUSE INHERITED NORMOTENSIVE HYPERKALEMIC ACIDOSIS.

JOURNAL OF HYPERTENSION(2015)

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摘要
Objective:Mutations in the WNK1 and WNK4 genes have been shown to cause Familial Hyperkalemic Hypertension (FHHt, OMIM #145260), an inherited disorder combining arterial hypertension and hyperkalemia with metabolic acidosis. More recently, mutations in the KLHL3-CUL3 E3 ubiquitin ligase complex have
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