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Mutation Report for: IVS40+2T>A_human-TG

IVS40+2T>A_human-TG
Gene_Locus|human-TG
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|IVS40+2T>A c.7036+2T>A splice donor site intron 40 skipping of exon 40 compound heterozygote with IVS6+1G>A
    Kinetic parameters|none


    References:
      Title: Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6
      Citterio CE, Morales CM, Bouhours-Nouet N, Machiavelli GA, Bueno E, Gatelais F, Coutant R, Gonzalez-Sarmiento R, Rivolta CM, Targovnik HM
      Ref: Mol Cell Endocrinol, 404:102, 2015 : PubMed

              




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