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Mutation Report for: Y109D_human-PPT1

Y109D_human-PPT1
Gene_Locus|human-PPT1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.(Tyr109Asp) c.325T>G Exon3. rs386833642 CM981628
    Kinetic parameters|none


    References:
      Title: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses
      Kousi M, Lehesjoki AE, Mole SE
      Ref: Hum Mutat, 33:42, 2012 : PubMed

              

      Title: Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis
      Das AK, Lu JY, Hofmann SL
      Ref: Hum Mol Genet, 10:1431, 2001 : PubMed

              

      Title: Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S
      Das AK, Becerra CH, Yi W, Lu JY, Siakotos AN, Wisniewski KE, Hofmann SL
      Ref: Journal of Clinical Investigation, 102:361, 1998 : PubMed

              




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