Article
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
Nature genetics - 1 May 2007
Sandilands Aileen, Terron-Kwiatkowski Ana, Hull Peter R, O'Regan Gráinne M, Clayton Timothy H, Watson Rosemarie M, Carrick Thomas, Evans Alan T, Liao Haihui, Zhao Yiwei, Campbell Linda E, Schmuth Matthias, Gruber Robert, Janecke Andreas R, Elias Peter M, van Steensel Maurice A M, Nagtzaam Ivo, van Geel Michel, Steijlen Peter M, Munro Colin S, Bradley Daniel G, Palmer Colin N A, Smith Frances J D, McLean W H Irwin, Irvine Alan D
Abstract excerpt
We recently reported two common filaggrin (FLG) null mutations that cause ichthyosis vulgaris and predispose to eczema and secondary allergic diseases. We show here that these common European mutations are ancestral variants carried on conserved haplotypes. To facilitate comprehensive analysis of...
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