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Mutation Report for: IVS8-1G>A_human-NDRG1

IVS8-1G>A_human-NDRG1
Gene_Locus|human-NDRG1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|Mutation, IVS8-1G>A (g.2290787G>A), which affects the splice-acceptor site of IVS8 and results in the skipping of exon 9 phenotype similar to R148X_human-NDRG1
    Kinetic parameters|none


    References:
      Title: Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease
      Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V and Kalaydjieva L <9 more author(s)>
      Ref: Hum Mutat, 22:129, 2003 : PubMed

              




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    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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