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Mutation Report for: L197del_human-PGAP1

L197del_human-PGAP1
Gene_Locus|human-PGAP1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.Leu197del c.589_591delCTT homozygous in two sibblings
    Kinetic parameters|none


    References:
      Title: Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy
      Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M and Jamra RA <2 more author(s)>
      Ref: PLoS Genet, 10:e1004320, 2014 : PubMed

              




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