Clinical features and genetic findings in Chinese children with distal renal tubular acidosis

Distal renal tubular acidosis (dRTA) is characterized by metabolic acidosis due to uric acid dysfunction. The aim of this study was to demonstrate the genetic diagnosis of Chinese children with dRTA by whole-exome sequencing. From Jan. 2010 to Sept. 2015, 16 children with dRTA were recruited to inve...

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Detalhes bibliográficos
Publicado no:Int J Clin Exp Pathol
Main Authors: Zhou, Fang, Mao, Jianhua, Ye, Qing, Zhu, Xiujuan, Zhang, Yingying, Ye, Yuhong, Fu, Haidong, Shen, Huijun, Lu, Zhihong, Xia, Yonghui, Liu, Aimin, Shu, Qiang, Du, Lizhong
Formato: Artigo
Idioma:Inglês
Publicado em: e-Century Publishing Corporation 2018
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6962865/
https://ncbi.nlm.nih.gov/pubmed/31949730
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