Missense variants in ALAS2 gene in five patients

Int J Lab Hematol. 2019 Feb;41(1):e5-e9. doi: 10.1111/ijlh.12902. Epub 2018 Jul 17.
No abstract available

Publication types

  • Letter

MeSH terms

  • 5-Aminolevulinate Synthetase / genetics*
  • Adult
  • Anemia / genetics
  • Child
  • Computer Simulation
  • Female
  • Humans
  • Male
  • Mutation, Missense*
  • Sequence Analysis, DNA

Substances

  • 5-Aminolevulinate Synthetase
  • ALAS2 protein, human