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Mutation Report for: IVS6+6A>T_human-ABHD5

IVS6+6A>T_human-ABHD5
Gene_Locus|human-ABHD5
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|IVS6+6 A>T homozygous point mutation affecting the predicted splice-donor site of intron 6 (IVS6+6 A>T) expected to result in frameshifts and the production of truncated, nonfunctional protein
    Kinetic parameters|none


    References:
      Title: Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5
      Badeloe S, van Geel M, Nagtzaam I, Rubio-Gozalbo ME, Oei RL, Steijlen PM, van Steensel MA
      Ref: Br J Dermatol, 158:1378, 2008 : PubMed

              




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    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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