Title : Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course.

Pub. Date : 2003 Feb

PMID : 12589089






1 Functional Relationships(s)
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1 Mutations in the bumetanide-sensitive Na-K-2Cl cotransporter (NKCC2) and ATP-sensitive inwardly rectifying potassium channel (ROMK) of the thick ascending limb of Henle"s loop have been identified in the antenatal Bartter syndrome. Adenosine Triphosphate potassium inwardly rectifying channel subfamily J member 1 Homo sapiens