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A new point mutation (M313T) in the thyroid hormone receptor beta gene in a patient with resistance to thyroid hormone



A new point mutation (M313T) in the thyroid hormone receptor beta gene in a patient with resistance to thyroid hormone



Thyroid 7(1): 43-44



Sequence analysis of the TR beta gene from a patient with the syndrome of resistance to thyroid hormone revealed a novel missense mutation in exon 9, changing thymidine in position 1123 to cytosine. The corresponding amino acid alteration is a substitution of a methionine (ATG) for a threonine (ACG) at codon 313 being the patient heterozygous for the mutation. In contrast, his parents had only the wild-type sequence, suggesting a de novo mutational event.

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Accession: 045082743

Download citation: RISBibTeXText

PMID: 9086569

DOI: 10.1089/thy.1997.7.43


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