Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease

Ruud G. L. Nellen*, Peter M. Steijlen, Maurice A. M. van Steensel, Maaike Vreeburg, Jorge Frank, Michel van Geel, European Professional Contributors

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)343-356
Number of pages14
JournalHuman Mutation
Volume38
Issue number4
DOIs
Publication statusPublished - Apr 2017

Keywords

  • Darier disease
  • Hailey-Hailey disease
  • acrokeratosis verruciformis of Hopf
  • ATP2A2
  • ATP2C1
  • SERCA2
  • SPCA1
  • locus-specific database
  • genotype-phenotype correlation
  • RETICULUM CA2+-ATPASE MUTANTS
  • ISRAEL COMBINED EVALUATION
  • HUMAN INHERITED DISEASE
  • CHINESE PATIENTS
  • ACROKERATOSIS VERRUCIFORMIS
  • CLINICAL-FEATURES
  • CA2+ PUMP
  • NEUROPSYCHIATRIC ASPECTS
  • CULTURED KERATINOCYTES
  • MISSENSE MUTATION

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