Mitochondrial ribonucleotide reductase large subunit deficiency

Type

Disease
Gene
- RRM1 / Ribonucleotide Reductase Regulatory Subunit M1
  11p15.4
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Ribonucleotide reductase subunit M1
Disease group(s)
- 9.1 Disorders of mitochondrial nucleotide pool maintenance