Novel allelic variants and evidence for prevalent mutation in SLC22A12 cause renal hypouricemia: biomechanical, molecular genetics and function analysis - Stibůrková, Blanka; Šebesta, Ivan; Ichida, K; Nakamura, M; Hůlková, Helena; Krylov, Vladimír (Dědičné metabolické poruchy, 2013)