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Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations.

Urolithiasis - 1 Feb 2021

Zhao Fangzhou, Li Jun, Tang Lei, Li Chunming, Wang Wenying, Ning Chen

Abstract excerpt

The aim of our study is to explore the relationship between genotype and phenotype in Chinese PH1 patients and determine the putative mutation hotspot regions. This was a retrospective study regarding 13 Chinese PH1 patients. And all sporadic published researches of Chinese PH1 populations were searched and enrolled based on the inclusive standard. All patients presented with multiple urolithiasis or...

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PMID: 32556641
DOI: 10.1007/s00240-020-01201-x

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