Purine nucleoside phosphorylase deficiency

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PNP / Purine Nucleoside Phosphorylase
  14q11.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Purine nucleoside phosphorylase
Disease group(s)
- 16.2 Disorders of purine metabolism