A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease

G Ital Dermatol Venereol. 2016 Oct;151(5):582-5.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Darier Disease / genetics*
  • Darier Disease / pathology
  • Female
  • Humans
  • Mutation
  • RNA Splice Sites / genetics*
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases / genetics*

Substances

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