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A novel missense mutation in the thyroid hormone receptor β gene in a kindred with resistance to thyroid hormone

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Abstract

Direct sequencing of exon 9 of the thyroid hormone receptorβ (TRβ) gene in a kindred with resistance to thyroid hormone revealed a substitution of threonine for methionine in codon 313 in one allele resulting from a T to C transition. This is a novel missense mutation that resides in one of the two mutational “hot-spot” regions of the TRβ gene suggesting altered triiodothyronine binding to this mutant receptor.

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Authors and Affiliations

  1. Department of Internal Medicine II, Hokkaido University School of Medicine, 060, Sapporo, Japan

    Hiromichi Kijima

  2. Section of Bacterial Infection, Institute of Immunological Science, Hokkaido University, 060, Sapporo, Japan

    Mitsumasa Kubo, Tatsuya Ishizuka, Mitsuaki Kakinuma & Takao Koike

Authors
  1. Hiromichi Kijima
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  2. Mitsumasa Kubo
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  3. Tatsuya Ishizuka
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  4. Mitsuaki Kakinuma
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  5. Takao Koike
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Kijima, H., Kubo, M., Ishizuka, T. et al. A novel missense mutation in the thyroid hormone receptor β gene in a kindred with resistance to thyroid hormone. Hum Genet 97, 407–408 (1996). https://doi.org/10.1007/BF02185783

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  • DOI: https://doi.org/10.1007/BF02185783

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