Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris.

@article{Chen2008UniqueAR,
  title={Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris.},
  author={Huijia Chen and Jean Chin Ching Ho and Aileen Sandilands and Yuin Chew Chan and Yoke Chin Giam and A. Thomas Evans and E. Birgitte Lane and W H Irwin McLean},
  journal={The Journal of investigative dermatology},
  year={2008},
  volume={128 7},
  pages={1669-75}
}
Filaggrin is an abundant protein of the outer epidermis that is essential for terminal differentiation of keratinocytes and formation of an effective barrier against water loss and pathogen/allergen/irritant invasion. Recent investigations in Europe and Japan have revealed null mutations in the filaggrin gene (FLG) as the underlying cause of ichthyosis vulgaris (IV), a common skin disorder characterised by dry skin, palmar hyperlinearity and keratosis pilaris. Following the development of a… CONTINUE READING