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Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H, Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC. Eckl KM, et al. Among authors: de juanes s. J Invest Dermatol. 2009 Jun;129(6):1421-8. doi: 10.1038/jid.2008.409. Epub 2009 Jan 8. J Invest Dermatol. 2009. PMID: 19131948 Free article.
12R-lipoxygenase deficiency disrupts epidermal barrier function.
Epp N, Fürstenberger G, Müller K, de Juanes S, Leitges M, Hausser I, Thieme F, Liebisch G, Schmitz G, Krieg P. Epp N, et al. Among authors: de juanes s. J Cell Biol. 2007 Apr 9;177(1):173-82. doi: 10.1083/jcb.200612116. Epub 2007 Apr 2. J Cell Biol. 2007. PMID: 17403930 Free PMC article.