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Novel Mutations in ALOX12B in Patients with Autosomal Recessive Congenital Ichthyosis and Evidence for Genetic Heterogeneity on Chromosome 17p13  Fabienne.

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Presentation on theme: "Novel Mutations in ALOX12B in Patients with Autosomal Recessive Congenital Ichthyosis and Evidence for Genetic Heterogeneity on Chromosome 17p13  Fabienne."— Presentation transcript:

1 Novel Mutations in ALOX12B in Patients with Autosomal Recessive Congenital Ichthyosis and Evidence for Genetic Heterogeneity on Chromosome 17p13  Fabienne Lesueur, Bakar Bouadjar, Caroline Lefèvre, Florence Jobard, Stéphanie Audebert, Hakima Lakhdar, Ludovic Martin, Gianluca Tadini, Aysen Karaduman, Serap Emre, Safa Saker, Mark Lathrop, Judith Fischer  Journal of Investigative Dermatology  Volume 127, Issue 4, Pages (April 2007) DOI: /sj.jid Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 ARCI pedigrees. (a) Pedigrees and construction of haplotypes in the eight ARCI families used for haplotype analysis. Blackened symbols denote ARCI patients. Position of the markers from the p telomere of chromosome 17 from Golden Path ( D17S1353 at 7.55Mb; D17S1796 at 7.73Mb; D17S1805 at 8.52Mb; and D17S1818 at 34.42Mb. Affected haplotypes are boxed. (b) Pedigrees of the three recently identified ARCI families included in the mutation-screening panel. *Individual in which mutation analysis was performed. Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Location of novel point mutations within the structural model of LOX proteins. Positions equivalent to the mutated residues are shown on the crystal structure of rabbit reticulocyte 15-LOX (according to the RCSB Protein Data Bank, Gray: iron. Mutations E394K, V527M, Q538P, and R679S are located in helix fragments, whereas mutations Q360E and H421Y are located in turn fragment. All mutations are located within the lipoxygenase catalytic domain. Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

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