1 | ALOX12B, ALOXE3, ARCI3, NCIE3B
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| Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.
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| Eckl KM, Krieg P, Kuster W, Traupe H, Andre F, Wittstruck N, Furstenberger G, Hennies HC.
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| Hum Mutat 26(4):351-61. 2005
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2 | ALOX12B, ALOXE3, ARCI3, NCIE3B
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| Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3.
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| Yu Z, Schneider C, Boeglin WE, Brash AR.
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| Biochim Biophys Acta 1686 3:238-47. 2005
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3 | ALOX12B, ALOXE3, ARCI3, NCIE3B
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| Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.
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| Jobard F, Lefevre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J.
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| Hum Mol Genet 11(1):107-13. 2002
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4 | ARCI3
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| Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.
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| Krebsova A, Kuster W, Lestringant GG, Schulze B, Hinz B, Frossard PM, Reis A, Hennies HC.
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| Am J Hum Genet 69(1):216-22. 2001
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