Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina
Keywords: پیریدوکسامین 5'-فسفات; OAT; ornithine δ-aminotransferase; PLP; pyridoxal 5â²-phosphate; GA; gyrate atrophy; L-Orn; L-ornithine; GSA; glutamic-γ-semialdehyde; α-KG; α-ketoglutarate; P5C; pirroline-5-carboxylate; OATwt; OAT wild-type; OATV332M; OAT bearing the V332M mutation