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.
Article
in Korean
| WPRIM
| ID: wpr-123752
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Thyroid Gland
/
Point Mutation
/
Thyroid Hormone Resistance Syndrome
/
Mothers
Limits:
Humans
Language:
Korean
Journal:
Journal of Korean Society of Endocrinology
Year:
2000
Type:
Article
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