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
Characterization of purine nucleoside phosphorylase in leukemia
β Scribed by Dr. Takayuki Morisaki; Naomi Horiuchi; Hisaichi Fujii; Shiro Miwa
- Publisher
- John Wiley and Sons
- Year
- 1986
- Tongue
- English
- Weight
- 404 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0361-8609
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Edited By Piet Herdewijn. Includes Bibliographical References And Index.
## Abstract ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a βFull Textβ option. The original article is trackable v
## Abstract Cultured skin fibroblasts from a patient with Tβcell 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