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A novel compound heterozygous mutation, including c.935_997delinsTGG, in exons 5/6 of SLC22A12 (URAT1) was identified in a patient with renal hypouricemia. This case expands the molecular mechanisms of renal hypouricemia, and suggests a potential relationship with exercise-induced renal failure. Copyright © 2016 Elsevier B.V. All rights reserved.

Citation

Kyoko Fujita, Kimiyoshi Ichida. A novel compound heterozygous mutation in the SLC22A12 (URAT1) gene in a Japanese patient associated with renal hypouricemia. Clinica chimica acta; international journal of clinical chemistry. 2016 Dec 01;463:119-121

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PMID: 27780716

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