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Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency

โœ Scribed by Nima Parvaneh; Shahram Teimourian; Gabriella Jacomelli; Mohsen Badalzadeh; Matteo Bertelli; Ekaterina Zakharova; Parviz Tabatabaei; Leila Parvaneh; Babak Pourakbari; Mehdi Yeganeh; Banafshe Tamizifar; Setareh Mamishi; Vanna Micheli


Book ID
108095485
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
109 KB
Volume
41
Category
Article
ISSN
0009-9120

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Incorporation of purine nucleosides in c
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## Abstract Cultured skin fibroblasts from a patient with Tโ€cell immune deficiency and an absence of purine nucleoside phosphorylase activity in red cells were assayed for their capacity to metabolize inosine and guanosine. The cultured fibroblasts were lacking activity of nucleoside phosphorylase