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 members for hormone assays and genomic DNA was isolated from leucocytes for genetic analyses. PATIENTS: Three members (B,C,E)...
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