One Novel and Two Recurrent THRB Mutations Associated with Resistance to Thyroid Hormone: Structure-based Computational Mutation Prediction

Inactivating mutations of THRB, which encodes the thyroid hormone receptor β (TRβ), cause resistance to thyroid hormone (RTH; OMIM 190160). To date, more than 100 THRB mutations have been reported among RTH patients. Most mutations substitute a single amino-acid residue in the ligand-binding domain....

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Detalles Bibliográficos
Autores principales: Narumi, Satoshi, Cho, Hideo, Tamada, Izumi, Kozu, Yuki, Tsuchiya, Takayoshi, Nagai, Toshiro, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2010
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687625/
https://www.ncbi.nlm.nih.gov/pubmed/23926384
http://dx.doi.org/10.1297/cpe.19.91

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