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Mutation Report for: E133DfsX3_human-LIPN

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
      Title: Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population
      Israeli S, Goldberg I, Fuchs-Telem D, Bergman R, Indelman M, Bitterman-Deutsch O, Harel A, Mashiach Y, Sarig O, Sprecher E
      Ref: Clinical & Experimental Dermatologyatol, 38:911, 2013 : PubMed


      Title: A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis
      Israeli S, Khamaysi Z, Fuchs-Telem D, Nousbeck J, Bergman R, Sarig O, Sprecher E
      Ref: American Journal of Human Genetics, 88:482, 2011 : PubMed


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    Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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