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Mutation Report for: S241L_human-PPT1

S241L_human-PPT1
Gene_Locus|human-PPT1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.Ser241Leu c.722C>T Exon8.
    Kinetic parameters|none


    References:
      Title: Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
      Santorelli FM, Garavaglia B, Cardona F, Nardocci N, Bernardina BD, Sartori S, Suppiej A, Bertini E, Claps D and Simonati A <4 more author(s)>
      Ref: Orphanet J Rare Dis, 8:19, 2013 : PubMed

              

      Title: Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series
      Perez Poyato MS, Mila Recansens M, Ferrer Abizanda I, Domingo Jimenez R, Lopez Lafuente A, Cusi Sanchez V, Rodriguez-Revenga L, Coll Rosell MJ, Gort L and Pineda Marfa M <1 more author(s)>
      Ref: Gene, 499:297, 2012 : PubMed

              




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