OnlineIMD

Mitochondrial poly(A) polymerase deficiency

  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • MTPAP / Mitochondrial Poly(A) Specific Ribonuclease
      • 10p11.23
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Mitochondrial poly(A) specific ribonuclease
  • Disease group(s)
    • 10.1    Disorders of mitochondrial transcript processing and modification