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Mutation Report for: L1851_R1896del_human-TG

L1851_R1896del_human-TG
Gene_Locus|human-TG
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.5590-5727del 138 bp deletion deletion of 46 amino-acids Leu 1851(1831) Arg1896(1875) in exon 19 splice site variant?
    Kinetic parameters|none


    References:
      Title: A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis
      Targovnik HM, Vono J, Billerbeck AE, Cerrone GE, Varela V, Mendive F, Wajchenberg BL, Medeiros-Neto G
      Ref: J Clinical Endocrinology Metab, 80:3356, 1995 : PubMed

              




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