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Mutation Report for: A108P_human-SPG21

Gene_Locushuman-SPG21 Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
Summary
    Commentp.A108P p.Ala108Pro c.447G>A. Two Japanese brothers with autosomal recessive SPG21. The patients had onset of gait disturbances in their fifties and sixties, much later than that reported by Cross and McKusick (1967) rs587777315
    References
      Title: Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses
      Ishiura H, Takahashi Y, Hayashi T, Saito K, Furuya H, Watanabe M, Murata M, Suzuki M, Sugiura A and Tsuji S <6 more author(s)>
      Ref: J Hum Genet, 59:163, 2014 : PubMed

              


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