一名甲状腺激素抵抗患者的甲状腺激素受体β基因出现新的点突变（M313T）。
A new point mutation (M313T) in the thyroid hormone receptor beta gene in a patient with resistance to thyroid hormone.
作者信息
di Fulvio M, Chiesa A E, Baranzini S E, Gruñiero-Papendieck L, Masini-Repiso A M, Targovnik H M
机构信息
Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Argentina.
出版信息
Thyroid. 1997 Feb;7(1):43-4. doi: 10.1089/thy.1997.7.43.
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.
对一名甲状腺激素抵抗综合征患者的TRβ基因进行序列分析，发现外显子9中有一个新的错义突变，第1123位的胸腺嘧啶变为胞嘧啶。相应的氨基酸改变是密码子313处的甲硫氨酸（ATG）被苏氨酸（ACG）取代，该患者为该突变的杂合子。相比之下，他的父母只有野生型序列，提示这是一个新生突变事件。
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