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Mutation Report for: V225CfsX4_human-ABHD5

V225CfsX4_human-ABHD5
Gene_Locus|human-ABHD5
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.V225CfsX4 p.Val225CysfsTer4 c.673delG p.V225Cfs abbrogates 120 last residues of the protein found Italy Bruno et al.
    Kinetic parameters|none


    References:
      Title: Clinical and genetic characterization of Chanarin-Dorfman syndrome.
      Bruno C, Bertini E, Di Rocco M, Cassandrini D, Ruffa G, De Toni T, Seri M, Spada M, Li Volti G and Minetti C <6 more author(s)>
      Ref: Biochemical & Biophysical Research Communications, 369:1125, 2008 : PubMed

              




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