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Mutation Report for: G42_G306delinsAKLR_human-PPT1

G42_G306delinsAKLR_human-PPT1
Gene_Locus|human-PPT1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.Gly42_Gly306delinsAlaLysLeuArg Multiple exon skipping (Intron 1, exon 2, exon 3) 3.6 kb del c.124+1215_235-102del3627
    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: Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations
      Simonati A, Tessa A, Bernardina BD, Biancheri R, Veneselli E, Tozzi G, Bonsignore M, Grosso S, Piemonte F, Santorelli FM
      Ref: Pediatr Neurol, 40:271, 2009 : PubMed

              




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