Mutations in Thyroid Hormone Receptor-beta Associated with Patients with Generalized Resistance and Pituitary Resistance to Thyroid Hormone / 대한내분비학회지
Journal of Korean Society of Endocrinology
; : 113-120, 2000.
Artigo
em Coreano
| WPRIM (Pacífico Ocidental)
| ID: wpr-123752
Biblioteca responsável:
WPRO
ABSTRACT
We report a point mutation in the TRbeta gene in korean patients with generalized resistance and pituitary resistance to thyroid hormone. One mutation at TRbeta (P453S) were detected in patient with pituitary resistance to thyroid, which showed different phenotype, generalized resistance to thyroid hormone, in her mothers. But, the other (C31Y), did not show clear relations with the disease. Therefore, further study of molecular and cellular basis will be warranted to explain the clear mechanism of the resistance to thyroid hormone.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Glândula Tireoide
/
Mutação Puntual
/
Síndrome da Resistência aos Hormônios Tireóideos
/
Mães
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of Korean Society of Endocrinology
Ano de publicação:
2000
Tipo de documento:
Artigo