Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient

Пуринова нуклеозидфосфорилаза

嘌呤核苷磷酸化酶

Purine nucleoside phosphorylase

Purine nucleoside phosphorylase also known as PNPase and inosine phosphorylase is an enzyme that in humans is encoded by the NP gene.