Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome.

doi:10.1111/j.1365-2265.1992.tb01444.x

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Article

Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome.

Clinical endocrinology - 1 Mar 1992

Adams M, Nagaya T, Tone Y, Jameson J L, Chatterjee V K

Abstract excerpt

OBJECTIVE: We wished to ascertain whether a mutation in the thyroid hormone receptor beta gene was present in a family with generalized thyroid hormone resistance syndrome and to characterize the functional properties of this mutant receptor. DESIGN: Blood samples were obtained from family member...

Topics

DNA Mutational Analysis
Female
Gene Expression Regulation
Humans
Male
Mutation
Pedigree
Receptors, Thyroid Hormone
Syndrome
Thyroid Diseases
Thyroid Hormones
Triiodothyronine

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