A novel mutation (M310L) in the thyroid hormone receptor beta causing resistance to thyroid hormone in a Brazilian kindred and a neonate. [electronic resource]
Producer: 20001228Description: 520-6 p. digitalISSN:- 1096-7192
- Adolescent
- Amino Acid Substitution
- Base Sequence
- Binding, Competitive
- Brazil
- Cell Line
- DNA -- chemistry
- DNA Mutational Analysis
- Dose-Response Relationship, Drug
- Family Health
- Female
- Gene Expression Regulation -- genetics
- Heterozygote
- Humans
- Infant, Newborn
- Male
- Mutation
- Pedigree
- Point Mutation
- Receptors, Thyroid Hormone -- genetics
- Recombinant Fusion Proteins -- genetics
- Thyroid Hormone Resistance Syndrome -- genetics
- Transfection
- Triiodothyronine -- metabolism
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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