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A novel compound heterozygous mutation in the SLC22A12 (URAT1) gene in a Japanese patient associated with renal hypouricemia



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 463: 119-121



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.

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Accession: 057079671

Download citation: RISBibTeXText

PMID: 27780716

DOI: 10.1016/j.cca.2016.10.025


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