Identification of compound heterozygous KCNJ1 mutations (Encoding ROMK) in a kindred with bartter’s syndrome and a functional analysis of their pathogenicity

Shalabh Srivastava, Dimin Li, Noel Edwards, Ann M. Hynes, Katrina Wood, Mohamed Al-Hamed, Anna C. Wroe, David Reaich, Shabbir H. Moochhala, Paul A. Welling, John A. Sayer

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Medicine & Life Sciences