Title : A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: Case report.

Pub. Date : 2019 Aug

PMID : 31441846






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1 We present 1 case with Bartter syndrome, due to a novel compound heterozygous mutation in the KCNJ1 gene encoding the ATP-sensitive inward rectifier potassium channel in the thick ascending limb of the loop of Henle. Adenosine Triphosphate potassium inwardly rectifying channel subfamily J member 1 Homo sapiens