Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia

Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) and is associated with pathogenic variants in either o...

Source: BMC Medical Genetics - April 6, 2020 Category: Genetics & Stem Cells Authors: Qi Yang, Hong Xu, Jingsi Luo, Mengting Li, Sheng Yi, Qinle Zhang, Guoxing Geng, Shihan Feng and Xin Fan Tags: Case report Source Type: research