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

@article{Fulvio1997ANP,
  title={A new point mutation (M313T) in the thyroid hormone receptor beta gene in a patient with resistance to thyroid hormone.},
  author={Maria Di Fulvio and Antonio Chiesa and Sergio E Baranzini and L Gru{\~n}iero-Papendieck and Ana Mar{\'i}a Masini-Repiso and H{\'e}ctor Manuel Targovnik},
  journal={Thyroid : official journal of the American Thyroid Association},
  year={1997},
  volume={7 1},
  pages={43-4}
}
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.