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Mutation Report for: R218X_human-LIPA

R218X_human-LIPA
Gene_Locus|human-LIPA
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.R218X p.Arg218Ter c.652 C>T found in a compound heterozygote with c.894 G>A (S275_Q298del) and R197X in mature protein. Found also in a compound heterozygote with c881T>C, P.L294S
    Kinetic parameters|none


    References:
      Title: Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants
      Pisciotta L, Tozzi G, Travaglini L, Taurisano R, Lucchi T, Indolfi G, Papadia F, Di Rocco M, D'Antiga L and Calandra S <7 more author(s)>
      Ref: Atherosclerosis, 265:124, 2017 : PubMed

              

      Title: Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene
      Pisciotta L, Fresa R, Bellocchio A, Pino E, Guido V, Cantafora A, Di Rocco M, Calandra S, Bertolini S
      Ref: Mol Genet Metab, 97:143, 2009 : PubMed

              




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