LETTER TO THE EDITOR| Volume 38, ISSUE 3, P231-234, June 2005

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

      Darier's disease (DD) is caused by mutations in the ATP2A2 gene, encoding SERCA2, a P-type ATPase [
      • Sakuntabhai A.
      • et al.
      Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
      ]. Clinically, DD is a disorder of keratinization with warty papules and plaques predominantly on the seborrheic areas of the skin. The oral mucosa and nails can also be involved. We performed mutation analysis of the ATP2A2 gene in two families and one sporadic case with DD. In each case, the diagnosis was confirmed by clinical and histopathological findings.


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