Structural insights revealed by two novel THRB mutations.
Ludmilla Ferreira CardosoMaria Clara de Carvalho MeloMirian Hideco TakahashiAlessandro Silva NascimentoMaria Izabel ChiamoleraLéa Maria Zanini MacielPublished in: Endocrine (2020)
This study provides a rational understanding of the effects of mutations, indicating deleterious structural changes in the LBC in both THR, and discloses that not only the position of the mutation but, notably, the nature of the amino acid exchange, has a cardinal role in the functional damage of the receptor.
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