Fig 1: Western blotting using antibodies directed against PCCA and PCCB proteins demonstrate very low hepatic levels of PCCA and PCCB in the PA patient (Patient 7, whose mutation is c.1283C > T, c.839delT in PCCB). The hepatic PCCA expression in the heterozygous donor (Donor 7) was higher than that of the healthy control, while PCCB expression levels were comparable. For all statistical tests, ***p < 0.001 and **p < 0.01 were considered significant. ns not significant