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Mutation Report for: Q388X_human-CTSA

Q388X_human-CTSA
Gene_Locus|human-CTSA
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.Q388X Gln388Ter (in the publication p.Q406X)
    Kinetic parameters|none


    References:
      Title: Galactosialidosis: review and analysis of CTSA gene mutations
      Caciotti A, Catarzi S, Tonin R, Lugli L, Perez CR, Michelakakis H, Mavridou I, Donati MA, Guerrini R and Morrone A <1 more author(s)>
      Ref: Orphanet J Rare Dis, 8:114, 2013 : PubMed

              




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