
Three novel variants (p.Glu178Lys, p.Val245Met, p.Ser250Phe) of the phenylalanine hydroxylase (PAH) gene impair protein expression and function in vitro
Keywords: BH4; Tetrahydrobiopterin; E. coli; Escherichia coli; ELISA; Enzyme-linked immunosorbent assay; hPAH; Human phenylalanine hydroxylase; IPTG; Isopropyl-β-d-thiogalactoside; kDa; Kilo Dalton; MBP; Maltose binding protein; PAH; Phenylalanine hydroxylase prot