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

著者: 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 - Nature Genetics 2006 被引用: 1,031