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Mutation Report for: Q329P_human-TG

Q329P_human-TG
Gene_Locus|human-TG
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.Q329P Gln329Pro c.986A>C (p.Q310P Gln310Pro without 19-aminoacid signal peptide)
    Kinetic parameters|none


    References:
      Title: Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan
      Hishinuma A, Fukata S, Nishiyama S, Nishi Y, Oh-Ishi M, Murata Y, Ohyama Y, Matsuura N, Kasai K and Ieiri T <10 more author(s)>
      Ref: J Clinical Endocrinology Metab, 91:3100, 2006 : PubMed

              




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