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Mutation Report for: T201NfsX11_human-SPG21

Name Class
T201NfsX11_human-SPG21Gene_locushuman-SPG21
AA_ChangeT201NfsX11
Mode_of_mutationNatural mutant
PaperSimpson_2003_Am.J.Hum.Genet_73_1147
Cross_1967_Arch.Neurol_16_1
DiseaseMast Syndrome
CommentP. T201NfsX11 Thr201AsnfsTer11 c.601insA Maspardin-ACP33-SPG21 is mutated in Mast syndrome (Cross and McKusick 1967, Simpson et al 2003); In an Ohio Amish isolate, Cross and McKusick (1967) found 20 cases of a recessively inherited form of presenile dementia, which they termed Mast syndrome rs387906275

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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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