Three novel mutations in the ATP2A2 gene in Hungarian families with Darier's disease, including a novel splice site generating intronic nucleotide change

J Dermatol Sci. 2005 Jun;38(3):231-4. doi: 10.1016/j.jdermsci.2005.03.005. Epub 2005 Apr 25.
No abstract available

Publication types

  • Letter

MeSH terms

  • Base Sequence
  • Calcium-Transporting ATPases / genetics*
  • DNA, Complementary / genetics
  • Darier Disease / genetics*
  • Female
  • Humans
  • Hungary
  • Introns
  • Male
  • Mutation*
  • Mutation, Missense
  • Pedigree
  • RNA Splice Sites
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases
  • Sequence Deletion

Substances

  • DNA, Complementary
  • RNA Splice Sites
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases
  • ATP2A2 protein, human
  • Calcium-Transporting ATPases