Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China

ConclusionThe current study reported six novel variants inSLC22A12 andSLC2A9 genes of Chinese patients with RHUC. The variant c.944G>A (p.W315X) inSLC2A9 may be common in Chinese patients. EIAKI is the main clinical phenotype associated with RHUC in our cohort, with a favorable outcome. Hypercalciuria presented in some RHUC patients is a new finding.
Source: Molecular Diagnosis and Therapy - Category: Molecular Biology Source Type: research