分子生物学/生物化学 Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli. Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase. Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts. Potential relationship between genotype and clinical outcome in propionic acidaemia patients. 丙酸血症: identification of twenty-four novel mutations in Europe and North America. High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase
