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

• Published in: Urolithiasis Vol. 49; no. 1; pp. 17 - 25
• Main Authors: Zhao, Fangzhou, Li, Jun, Tang, Lei, Li, Chunming, Wang, Wenying, Ning, Chen
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.02.2021; Springer Nature B.V
• Subjects: Creatinine; Genomes; Genotype & phenotype; Kidneys; Medical Biochemistry; Medicine; Medicine & Public Health; Mutation; Nephrology; Original Paper; Patients; Urine; Urology; Chinese; Phenotype; Primary hyperoxaluria type 1; AGXT

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 sear...