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See Latest ArticlesThe p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation
Journal of Clinical Endocrinology and Metabolism, 06/12/09
Pardo V et al. - All studied patients were either homozygous or heterozygous for TG gene mutations. Two novel mutations have been detected and the authors show that TG mutation p.A2215D promotes the retention of TG within the ER and reduces TG synthesis and secretion causing mild hypothyroidism. In the presence of sufficient iodine supply, some patients with TG mutations are able to compensate the impaired hormonogenesis and generate thyroid hormone.
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