Pseudouridine synthase 1 deficiency

Synonym(s)
- Myopathy, lactic acidosis, and sideroblastic anemia type 1
Type

Disease
External link(s)
- IEMbase
Gene
- PUS1 / Pseudouridine Synthase 1
  12q24.33
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Pseudouridine synthase 1
Disease group(s)
- 10.1 Disorders of mitochondrial transcript processing and modification