Title : Evaluation of thyroid hormone action in a case of generalized resistance to thyroid hormone with chronic thyroiditis: discovery of a novel heterozygous missense mutation (G347A).

Pub. Date : 2007 Dec

PMID : 17827792






1 Functional Relationships(s)
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1 Sequence analysis of the TR beta gene was performed with informed consent, and this revealed a novel heterozygous mutation at codon 347 resulting in a GGG (glycine) to GCG (alanine) substitution (G347A). Glycine T cell receptor beta locus Homo sapiens