A new mutation of ANO6 in two familial cases of Scott syndrome

Br J Haematol. 2018 Mar;180(5):750-752. doi: 10.1111/bjh.14439. Epub 2016 Nov 23.
No abstract available

Keywords: ANO6; Anoctamin 6; Scott syndrome; inherited platelet disorder; scramblase.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Anoctamins / genetics*
  • Blood Coagulation Disorders / genetics*
  • Codon, Nonsense / genetics*
  • Female
  • Gene Deletion*
  • Humans
  • Phospholipid Transfer Proteins / genetics*

Substances

  • ANO6 protein, human
  • Anoctamins
  • Codon, Nonsense
  • Phospholipid Transfer Proteins

Supplementary concepts

  • Scott Syndrome