A novel point mutation at donor splice-site in intron 18 of ATP2A2 gene resulting in the insertion of 27 nucleotides into the mature mRNA in a Chinese patient with severe Darier's disease

J Dermatol Sci. 2011 Oct;64(1):72-5. doi: 10.1016/j.jdermsci.2011.06.014. Epub 2011 Jul 6.
No abstract available

Publication types

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

MeSH terms

  • Calcium-Transporting ATPases / genetics*
  • Darier Disease / genetics*
  • Female
  • Humans
  • Male
  • Mutation*

Substances

  • Calcium-Transporting ATPases