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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.
Hum Mol Genet. 2002 Jan 1;11(1):107-13. doi: 10.1093/hmg/11.1.107.
Hum Mol Genet. 2002.
PMID: 11773004
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J.
Lefèvre C, et al.
Am J Hum Genet. 2001 Nov;69(5):1002-12. doi: 10.1086/324121. Epub 2001 Oct 2.
Am J Hum Genet. 2001.
PMID: 11590543
Free PMC article.
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