Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease

Br J Dermatol. 2010 Mar;162(3):687-9. doi: 10.1111/j.1365-2133.2009.09580.x. Epub 2009 Nov 30.
No abstract available

Publication types

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

MeSH terms

  • DNA Mutational Analysis
  • Darier Disease / genetics*
  • Darier Disease / pathology
  • Genotype
  • Humans
  • Male
  • Mutation
  • Phenotype
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases / genetics*
  • Sequence Deletion / genetics*
  • Young Adult

Substances

  • Sarcoplasmic Reticulum Calcium-Transporting ATPases