Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis

Am J Hematol. 2017 Oct;92(10):E607-E609. doi: 10.1002/ajh.24853. Epub 2017 Jul 29.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Elliptocytosis, Hereditary / genetics*
  • Female
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Infant
  • Male
  • Mutation, Missense*
  • Oman
  • Spectrin / genetics*

Substances

  • Spectrin

Supplementary concepts

  • Pyropoikilocytosis, Hereditary