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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.
J Clin Endocrinol Metab. 2004 Feb;89(2):646-57. doi: 10.1210/jc.2003-030587.
J Clin Endocrinol Metab. 2004.
PMID: 14764776
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