Nature Genetics 38, 337 - 342 (2006)
Published online: 29 January 2006; | doi:10.1038/ng1743
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgarisFrances J D Smith, Alan D Irvine, Ana Terron-Kwiatkowski, Aileen Sandilands, Linda E Campbell, Yiwei Zhao, Haihui Liao, Alan T Evans, David R Goudie, Sue Lewis-Jones, Gehan Arseculeratne, Colin S Munro, Ann Sergeant, Gráinne O'Regan, Sherri J Bale, John G Compton, John J DiGiovanna, Richard B Presland, Philip Fleckman
& W H Irwin McLean Supplementary Fig. 1 (pdf 2M)
Loss of filaggrin expression in cultured keratinocytes from an R501X homozygote. Supplementary Fig. 2 (pdf 2M)
Biochemical evidence for loss of filaggrin production in the skin of an R501X homozygote. Supplementary Table 1 (pdf 20K)
PCR primer sequences used for human filaggrin analysis.
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