Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome

Blood. 2011 Apr 21;117(16):4399-400. doi: 10.1182/blood-2011-01-332502.
No abstract available

Publication types

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

MeSH terms

  • Anoctamins
  • Female
  • Hemorrhage / genetics*
  • Heterozygote
  • Humans
  • Middle Aged
  • Mutation*
  • Phospholipid Transfer Proteins / genetics*

Substances

  • ANO6 protein, human
  • Anoctamins
  • Phospholipid Transfer Proteins