Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma

Br J Dermatol. 2012 Jan;166(1):218-21. doi: 10.1111/j.1365-2133.2011.10516.x. Epub 2011 Sep 29.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Child
  • Child, Preschool
  • DNA, Complementary / genetics
  • Female
  • Heterozygote
  • Humans
  • Ichthyosiform Erythroderma, Congenital / genetics*
  • Infant
  • Male
  • Mutation / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • ABCA12 protein, human
  • ATP-Binding Cassette Transporters
  • DNA, Complementary