Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma

@article{Akiyama2008NovelCH,
  title={Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma},
  author={Masashi Akiyama and Kaori Sakai and Atsushi Hatamochi and Shudo Yamazaki and J R Mcmillan and Hiroshi Shimizu},
  journal={The British journal of dermatology},
  year={2008},
  volume={158 4},
  pages={
          864-7
        }
}