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Mutation Report for: C183Y_human-TG

C183Y_human-TG
Gene_Locus|human-TG
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.C183Y Cys183Tyr c.548G>A (p.C164Y Cys164Tyr without 19-amino-acid signal peptide) compound heterozygote with L253fsX3(L234fsX237) mutation
    Kinetic parameters|none


    References:
      Title: Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene
      Caputo M, Rivolta CM, Esperante SA, Gruneiro-Papendieck L, Chiesa A, Pellizas CG, Gonzalez-Sarmiento R, Targovnik HM
      Ref: Clinical Endocrinology (Oxf), 67:351, 2007 : PubMed

              




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