| Literature DB >> 9086569 |
M di Fulvio1, A E Chiesa, S E Baranzini, L Gruñiero-Papendieck, A M Masini-Repiso, H M Targovnik.
Abstract
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.Entities:
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Year: 1997 PMID： 9086569 DOI： 10.1089/thy.1997.7.43
Source DB: PubMed Journal: Thyroid ISSN： 1050-7256 Impact factor: 6.568