A novel ATP2C1 early truncation mutation suggests haploinsufficiency as a pathogenic mechanism in a patient with Hailey-Hailey disease

Acta Derm Venereol. 2013 Nov;93(6):719-20. doi: 10.2340/00015555-1551.
No abstract available

Publication types

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

MeSH terms

  • Biopsy
  • Calcium-Transporting ATPases / genetics*
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Haploinsufficiency*
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Pemphigus, Benign Familial / enzymology
  • Pemphigus, Benign Familial / genetics*
  • Pemphigus, Benign Familial / pathology
  • Phenotype
  • Skin / enzymology
  • Skin / pathology

Substances

  • ATP2C1 protein, human
  • Calcium-Transporting ATPases