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

Conclusions: heterogeneity between genotype and phenotype was observed and described in Chinese PH1 patients. c.815_816insGA and c.33_34insC which were recognized asAGXT mutation hotspot regions in China implied a poor prognosis. And c.1049G>A was not determined as the race-specific mutation of Pakistani.
Source: Urolithiasis - Category: Urology & Nephrology Source Type: research