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Mutation Report for: Q2657X_human-TG

Q2657X_human-TG
Gene_Locus|human-TG
Mode of mutation|Natural mutant
Amino Acid change|Q2657X
Torpedo number|471
Summary|
Comment|p.Q2657X Gln2657Ter c.7969C>T (p.Q2638X Gln2638Ter 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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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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