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Mutation Report for: IVS6-1G>T_ratno-thyro

IVS6-1G>T_ratno-thyro
Gene_Locus|ratno-thyro
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|IVS6-1G>T c.749-1G>T the acceptor site (3' end) of intron 6 that induces a complete missing of exon 7 in Wistar Hannover GALAS rat that manifests two distinct spontaneous abnormalities, goiter and dwarfism
    Kinetic parameters|none


    References:
      Title: A novel mutation in the thyroglobulin gene that causes goiter and dwarfism in Wistar Hannover GALAS rats
      Sato A, Abe K, Yuzuriha M, Fujii S, Takahashi N, Hojo H, Teramoto S, Aoyama H
      Ref: Mutat Res, 762:17, 2014 : PubMed

              




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