First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene

Br J Haematol. 2023 Nov;203(4):e102-e107. doi: 10.1111/bjh.19050. Epub 2023 Sep 11.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Aplastic* / genetics
  • Bone Marrow Diseases* / genetics
  • Bone Marrow Failure Disorders
  • DNA Helicases / genetics
  • Humans
  • Mutation
  • Spain

Substances

  • ERCC6L2 protein, human
  • DNA Helicases