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Mutation Report for: R16VfsX19_human-ABHD5

R16VfsX19_human-ABHD5
Gene_Locus|human-ABHD5
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.R16VfsX19 p.Arg16ValfsX c.del46/47AG frameshift at position 35 fs35stop rs387906336
    Kinetic parameters|none


    References:
      Title: Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome
      Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL and Fischer J <4 more author(s)>
      Ref: American Journal of Human Genetics, 69:1002, 2001 : PubMed

              




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