Pyrimidine nucleoside transporter deficiency

Synonym(s)
- Uridine-cytidineuria
Type

Disease
External link(s)
- IEMbase
Gene
- SLC28A1 / SLC28A1
  15q25.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Nucleoside transporter, equilibrative
Disease group(s)
- 16.1 Disorders of pyrimidine metabolism