Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
Smith FJ; Irvine AD; Terron-Kwiatkowski A; Sandilands A; Campbell LE; Zhao Y; Liao H; Evans AT; Goudie DR; Lewis-Jones S; Arseculeratne G; Munro CS; Sergeant A; O'Regan G; Bale SJ; Compton JG; DiGiovanna JJ; Presland RB; Fleckman P; McLean WH; Nature Genetics, 2006, vol. 38, issue 3, p 337, ISSN 10614036. ISBN 10614036.

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