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

Abstract excerpt

We analyzed the thyroglobulin (Tg) gene of 2 unrelated patients with congenital goiter and the Tg gene of 2 siblings with the variant type of adenomatous goiter. The clinical characteristics of the patients with congenital goiter and the variant type of adenomatous goiter were very similar, except for serum Tg levels, which were less than 15 pmol/L in the patients with congenital goiter, but 117-181 pmol/L in the...

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