2006Nature GeneticsRequires access

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Frances J.D. Smith, Alan D. Irvine, Ana Terron-Kwiatkowski, Aileen Sandilands, Linda Campbell, Yiwei Zhao, Haihui Liao, Alan Evans, David Goudie, Sue Lewis‐Jones, Gehan Arseculeratne, Colin S. Munro, Ann Sergeant, Gráinne M. O’Regan, Sherri J. Bale, John G. Compton, John J DiGiovanna, Richard B. Presland, Philip Fleckman, W.H. Irwin McLean

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Key concepts: Ichthyosis vulgaris, Filaggrin, Biology, Genetics, Ichthyosis, Keratin, Allele, Mutation

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