The first report of homozygous May-Hegglin anomaly E1841K mutation

Eur J Haematol. 2011 Apr;86(4):357. doi: 10.1111/j.1600-0609.2010.01553.x. Epub 2011 Jan 11.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Blood Platelets / pathology
  • Hearing Loss, Sensorineural
  • Heterozygote
  • Homozygote
  • Humans
  • Inclusion Bodies / pathology
  • Iran
  • Male
  • Middle Aged
  • Molecular Motor Proteins / genetics*
  • Mutation, Missense
  • Myosin Heavy Chains / genetics*
  • Neutrophils / pathology
  • Thrombocytopenia / blood
  • Thrombocytopenia / genetics

Substances

  • MYH9 protein, human
  • Molecular Motor Proteins
  • Myosin Heavy Chains

Supplementary concepts

  • MYH9-Related Disorders