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Mutation Report for: W116X_human-LIPA

W116X_human-LIPA
Gene_Locus|human-LIPA
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.(W116X) p.(Trp116Ter) c.347G>A, p.(W116*)
    Kinetic parameters|none


    References:
      Title: Wolman disease successfully treated by bone marrow transplantation
      Krivit W, Peters C, Dusenbery K, Ben-Yoseph Y, Ramsay NK, Wagner JE, Anderson R
      Ref: Bone Marrow Transplant, 26:567, 2000 : PubMed

              

      Title: Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease
      Anderson RA, Bryson GM, Parks JS
      Ref: Mol Genet Metab, 68:333, 1999 : PubMed

              




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