Identification of two novel heterozygous SLC2A9 mutations in a Chinese woman and review of literature-Reference-Cited by-同舟云学术

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

Published:2021-12 Issue: Volume:523 Page:58-64
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

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

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference46 articles.

1. Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early-onset and fast cyst progression;Peces;Clin. Genet.,2020

2. Asymmetric syncytial expression of GLUT9 splice variants in human term placenta and alterations in diabetic pregnancies;Bibee;Reprod. Sci. (Thousand Oaks, Calif.),2011

3. Identification and characterization of human glucose transporter-like protein-9 (GLUT9): alternative splicing alters trafficking;Augustin;J. Biol. Chem.,2004

4. SLC2A9 is a high-capacity urate transporter in humans;Caulfield;PLoS Med.,2008

5. Idiopathic renal hypouricemia: A case report and literature review;Wang;Mol. Med. Rep.,2019

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China;Molecular Diagnosis & Therapy;2023-11-16

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