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先天性非大疱性鱼鳞病样红皮病1例 被引量:1

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出处 《中国麻风皮肤病杂志》 2008年第5期390-391,共2页 China Journal of Leprosy and Skin Diseases
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  • 1Krebsova A,Kuster W,Lestringant GG,et al. Identification,by homozygosity mapping,of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. Am J Hum C enet,2001,69:216-222.
  • 2Jobard F, Lefevre C, Karaduman A, et al. 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,2002,11:107-113.
  • 3Lavrijsen AP,Bouwstra JA,Gooris GS,et al. Reduced skin barrier function parallels abnormal stratum corneum lipid organization in patients with lamellar ivhthyosis.J Invest Dermatol,1995,105: 619-624.
  • 4Fischer J,Faure A,Bouadjax B,et al. Two New Loci For Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity. Am J Hum Genet,2000,64:904-913.
  • 5Nemes Z, Marekov LN, Fesus L,et al. A novel function for transglutaminase 1: attachment of long-chain omegahydroxyceramides to involucrin by ester bond formation. Proc Natl Acad Sci USA, 1999,96: 8402-8407.
  • 6Laiho E,Ignatius J,Mikkola H, et al. Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. Am J Hum Genet, 1997,61:529-538.
  • 7Dib C,Faure S,Fizames C,et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature, 1996,380:
  • 8Candi E,Melino G,Lahm A,et al.Transglutamiase 1 mutations in lamellar ichthyosis. Loss of activity due to failure of activation by proteolytic processing. J Biol Chem, 1998,273:13693-13702.
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