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Mutation Report for: IVS9+2T>G_human-LIPA

IVS9+2T>G_human-LIPA
Gene_Locus|human-LIPA
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.966+2T>G donor splice site of intron9 abolished found in 9 homozygote patients with Wolman disease. A compound heterozygote with c.509C > A(p.S103R)/c.796G > T(p.G266X) (Santos Silva 2018)
    Kinetic parameters|none


    References:
      Title: Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa
      Santos Silva E, Klaudel-Dreszler M, Bakula A, Oliva T, Sousa T, Fernandes PC, Tylki-Szymanska A, Kamenets E, Martins E, Socha P
      Ref: Clin Res Hepatol Gastroenterol, 42:e77, 2018 : PubMed

              

      Title: Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease
      Ruiz-Andres C, Selles E, Arias A, Gort L
      Ref: JIMD Rep, 37:7, 2017 : PubMed

              




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