Purine Nucleoside Phosphorylase. 2. Catalytic Mechanism †
✍ Scribed by Erion, Mark D.; Stoeckler, Johanna D.; Guida, Wayne C.; Walter, Richard L.
- Book ID
- 118206158
- Publisher
- American Chemical Society
- Year
- 1997
- Tongue
- English
- Weight
- 429 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0006-2960
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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
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