A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome

Br J Haematol. 2022 Jun;197(6):e88-e93. doi: 10.1111/bjh.18112. Epub 2022 Mar 17.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Bone Marrow Diseases* / genetics
  • Exocrine Pancreatic Insufficiency* / genetics
  • HSP40 Heat-Shock Proteins / genetics
  • Humans
  • Lipomatosis* / genetics
  • Mutation
  • Mutation, Missense
  • Shwachman-Diamond Syndrome / genetics

Substances

  • DNAJC21 protein, human
  • HSP40 Heat-Shock Proteins