Article
Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.
The Journal of clinical endocrinology and metabolism - 1 Feb 2004
Gutnisky Viviana J, Moya Christian M, Rivolta Carina M, Domené Sabina, Varela Viviana, Toniolo Jussara V, Medeiros-Neto Geraldo, Targovnik Héctor M
Abstract excerpt
In this study, we have extended our initial molecular studies of a nonconsanguineous family with two affected siblings and one of their nephews with congenital goiter, hypothyroidism, and marked impairment of thyroglobulin synthesis. Genomic DNA sequencing revealed that the index patient (affecte...
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