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Mutation Report for: L10X_human-PPT1

L10X_human-PPT1
Gene_Locus|human-PPT1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.(Leu10Ter) c.29T>A Exon 1. Found in 2 patients as compound heterozygous state with a missense mutation rs137852699, CM981623
    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: 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

              

      Title: Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits
      Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL and O'Rawe AM <7 more author(s)>
      Ref: Hum Mol Genet, 7:291, 1998 : PubMed

              

      Title: Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland
      Munroe PB, Greene ND, Leung KY, Mole SE, Gardiner RM, Mitchison HM, Stephenson JB, Crow YJ
      Ref: Journal of Medical Genetics, 35:790, 1998 : PubMed

              




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