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Mutation Report for: IVS1+1G>A_human-PPT1

IVS1+1G>A_human-PPT1
Gene_Locus|human-PPT1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.124+1G>A Intron 1 Aberrant splicing Splice site
    Kinetic parameters|none


    References:
      Title: [Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis]
      Bi HY, Yao S, Bu DF, Wang ZX, Zhang Y, Qin J, Yang YL, Yuan Y
      Ref: Zhonghua Er Ke Za Zhi, 44:496, 2006 : PubMed

              




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