Gray platelet syndrome: Novel mutations of the NBEAL2 gene

Am J Hematol. 2017 Feb;92(2):E20-E22. doi: 10.1002/ajh.24610.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • Blood Proteins / genetics*
  • Child
  • Female
  • Gene Expression
  • Gene Frequency
  • Genotype
  • Gray Platelet Syndrome / blood
  • Gray Platelet Syndrome / diagnosis*
  • Gray Platelet Syndrome / genetics*
  • Humans
  • Male
  • Mutation*
  • Phenotype
  • Platelet Aggregation
  • Platelet Count
  • Platelet Membrane Glycoproteins / genetics

Substances

  • Blood Proteins
  • NBEAL2 protein, human
  • Platelet Membrane Glycoproteins