Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant C.374c>t; P.(t125m).
International Journal of Molecular Sciences(2023)
Key words
renal hypouricemia,URAT1,GLUT9,renal tubular transport,pathogenic variant,haplotype analysis,founder mutation
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