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

作者：Fujita Kyoko; Ichida Kimiyoshi^*

来源：Clinica Chimica Acta, 2016, 463: 119-121.

DOI：10.1016/j.cca.2016.10.025

• SLC22A12
• URAT1
• Renal hypouricemia
• Heterozygous mutation
• Delins mutation

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.

• 出版日期2016-12-1