Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria

Figure 3

Schematic representation of known pathogenic amino acid changes associated with PH1 (a), PH2 (b), and PH3 (c) in this cohort. The “n” represents the frequency of the mutation emerged in the patients. Hotspot mutations are indicated in red, and novel mutations identified in this study are indicated with triangles.

(a)

(b)

(c)