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    • The Genetic and Functional Role of ABCA12 in Harlequin Ichthyosis 

      Bland, Philip James (Queen Mary University of London, 2016-02-19)
      Harlequin Ichthyosis (HI) is the most severe disorder in the family of autosomal recessive congenital ichthyosis (ARCI). Recessive mutations in the ABC transporter ABCA12 were found to be causative in HI. Loss of ABCA12 ...