Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis

J Dermatol Sci. 2013 Mar;69(3):259-61. doi: 10.1016/j.jdermsci.2012.11.004. Epub 2012 Nov 14.
No abstract available

Publication types

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

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Cell Differentiation
  • DNA Mutational Analysis
  • Female
  • Hair*
  • Humans
  • Ichthyosis, Lamellar / drug therapy
  • Ichthyosis, Lamellar / genetics*
  • Infant
  • Lipids / chemistry
  • Phenotype
  • RNA Splicing
  • RNA, Messenger / analysis
  • Retinoids / therapeutic use
  • Sequence Deletion*
  • Skin / pathology*

Substances

  • ABCA12 protein, human
  • ATP-Binding Cassette Transporters
  • Lipids
  • RNA, Messenger
  • Retinoids