Next-generation sequencing identified a novel SPTB frameshift insertion causing hereditary spherocytosis in China

Ann Hematol. 2019 Jan;98(1):223-226. doi: 10.1007/s00277-018-3417-3. Epub 2018 Jul 1.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Child
  • China
  • Female
  • Frameshift Mutation*
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Mutagenesis, Insertional*
  • Spectrin / genetics*
  • Spherocytosis, Hereditary / genetics*

Substances

  • SPTB protein, human
  • Spectrin