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Purine Nucleoside Phosphorylase Deficiency: A Mutation Update

โœ Scribed by Walker, P. L. C.; Corrigan, Adele; Arenas, Monica; Escuredo, Emilia; Fairbanks, Lynette; Marinaki, Anthony


Book ID
111906677
Publisher
Taylor and Francis Group
Year
2011
Tongue
English
Weight
78 KB
Volume
30
Category
Article
ISSN
0732-8311

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Purine nucleoside phosphorylase deficiency is an inherited disease of purine metabolism characterized clinically as combined immunodeficiency. The molecular defects have been published for 4 different alleles in 3 patients. We report four new mutations including two amino acid substitutions, A 174P

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## Abstract The biochemical features of two families with purine nucleoside phosphorylase deficiency are compared. Laboratory studies and an evaluation of kinetic and physical properties of erythrocyte purine nucleoside phosphorylase give evidence that a) the degree of abnormality in uric acid and

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