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Article

Identification of two novel heterozygous SLC2A9 mutations in a Chinese woman and review of literature.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2021

Sun Weixia, Yang Jiaxuan, Zhang Yajuan, Zhang Wendi, Song Xiaojun, Fan Yuanyuan, Zhou Xinli

Abstract excerpt

OBJECTIVE: This study is aimed to describe the clinical and genetic characteristics of a Chinese woman diagnosed with renal hypouricemia type 2 (RHUC2). We also summarize the advances in research on RHUC2 by reviewing related literature. METHODS: We measured clinical parameters of a 57-year-old female and performed whole-exome sequencing to screen for mutations. Human embryonic kidney 293 cells were transiently...

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Identifiers

PMID: 34499869
DOI: 10.1016/j.cca.2021.09.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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