Concepedia

New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism

Cintia E. Citterio, Gloria A. Machiavelli, Mirta Miras, Laura Gruñeiro‐Papendieck, Katherine Lachlan, Gabriela Sobrero, Ana Chiesa, Joanna Walker, Liliana Muñoz, Graciela Testa,

Molecular and Cellular Endocrinology · 2012 · 35 citations · 37 references

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37

A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.

Tamio Ieiri, Pascale Cochaux, Héctor M. Targovnik et al. · Journal of Clinical Investigation · 1991 · 169 citations · Full text

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Up to date with human thyroglobulin

S.A. van de Graaf, Carrie Ris‐Stalpers, Erwin Pauws et al. · Journal of Endocrinology · 2001 · 150 citations · Full text

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Molecular Basis of Thyroid Dyshormonogenesis: Genetic Screening in Population-Based Japanese Patients

Satoshi Narumi, Koji Muroya, Yumi Asakura et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 99 citations · Full text

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Two Novel Cysteine Substitutions (C1263R and C1995S) of Thyroglobulin Cause a Defect in Intracellular Transport of Thyroglobulin in Patients with Congenital Goiter and the Variant Type of Adenomatous Goiter1

Akira Hishinuma, Junta Takamatsu, Yoshihide Ohyama et al. · The Journal of Clinical Endocrinology & Metabolism · 1999 · 92 citations · Full text

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A Premature Stopcodon in Thyroglobulin Messenger RNA Results in Familial Goiter and Moderate Hypothyroidism

Simone A. R. van de Graaf, Carrie Ris‐Stalpers, Geertruda J. M. Veenboer et al. · The Journal of Clinical Endocrinology & Metabolism · 1999 · 87 citations

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