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
Novel Mutations and Hot-Spots in Patients with Purine Nucleoside Phosphorylase Deficiency
โ Scribed by Eyal Grunebaum; Junyang Zhang; Chaim M. Roifman
- Publisher
- John Wiley and Sons
- Year
- 2005
- Weight
- 8 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0931-7597
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