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Mutation Report for: Q1796X_human-TG

Q1796X_human-TG
Gene_Locus|human-TG
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.Q1796X Gln1796Ter c.5386C>T (p.Q1777X Gln1777Ter without 19-amino-acid signal peptide) found in compound heterozygote R1530X/Q1796X(R1511X/Q1777X)
    Kinetic parameters|none


    References:
      Title: Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene
      Targovnik HM, Souchon PF, Machiavelli GA, Salmon-Musial AS, Mauran PL, Sulmont V, Doco-Fenzy M, Rivolta CM
      Ref: Clinical Endocrinology (Oxf), 72:716, 2010 : PubMed

              




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