Nucleotide catabolism defects

Stable Identifier
R-HSA-9735786
Type
Pathway
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
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Nucleotide catabolism defects
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Purine nucleotide phosphorylase defects (Aust et al. 1992, Williams et al. 1987) are annotated here.
Literature References
PubMed ID Title Journal Year
3029074 A human purine nucleoside phosphorylase deficiency caused by a single base change

Williams, SR, Gekeler, V, McIvor, RS, Martin, Jr, DW

J Biol Chem 1987
1384322 Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency

Barrett, MJ, Andrews, LG, Markert, ML, Norby-Slycord, CJ, Aust, MR

Am J Hum Genet 1992
Participants
Events
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as an event of
Disease
Name Identifier Synonyms
purine-pyrimidine metabolic disorder DOID:653 inborn errors of purine-pyrimidine metabolism
Authored
D'Eustachio, P  (2021-07-02)
Reviewed
Jassal, B  (2021-07-09)
Created
D'Eustachio, P  (2021-07-02)
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