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Mutation Report for: V181M_human-PPT1

V181M_human-PPT1
Gene_Locus|human-PPT1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.(Val181Met) c.541G>A Exon6. rs148412181, CM981632
    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: 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: 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

              

      Title: Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population
      Teixeira C, Guimaraes A, Bessa C, Ferreira MJ, Lopes L, Pinto E, Pinto R, Boustany RM, Sa Miranda MC, Ribeiro MG
      Ref: Journal of Neurology, 250:661, 2003 : 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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