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Urinary Purines and Nucleosides in Immune Deficiencies

✍ Scribed by GORDON C. MILLS; FRANK C. SCHMALSTIEG; RANDALL M. GOLDBLUM

Book ID
118722561
Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
541 KB
Volume
451
Category
Article
ISSN
0890-6564

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πŸ“œ SIMILAR VOLUMES

Mutations in purine nucleoside phosphory
Mutations in purine nucleoside phosphorylase deficiency
✍ M. Louise Markert; Bruce D. Finkel; Tanya M. McLaughlin; TJ Watson; Harold R. Co πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 136 KB

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