Whole exome sequencing identifies a novel SPTB frameshift mutation causing hereditary spherocytosis in the Chinese population

Ann Hematol. 2022 Oct;101(10):2355-2357. doi: 10.1007/s00277-022-04900-0. Epub 2022 Jun 21.
No abstract available

Publication types

  • Letter

MeSH terms

  • Asian People / genetics
  • China
  • Exome Sequencing
  • Frameshift Mutation*
  • Humans
  • Mutation
  • Pedigree
  • Spectrin / genetics
  • Spherocytosis, Hereditary* / genetics

Substances

  • Spectrin