title: A novel familial variation of the thyroid hormone receptor beta gene (I276N) associated with resistance to thyroid hormone.
authors.forename: Alice
authors.initials: A
authors.lastname: Monzani
authors.forename: Stefania
authors.initials: S
authors.lastname: Moia
authors.forename: Flavia
authors.initials: F
authors.lastname: Prodam
authors.forename: Gillian Elisabeth
authors.initials: GE
authors.lastname: Walker
authors.forename: Simonetta
authors.initials: S
authors.lastname: Bellone
authors.forename: Antonella
authors.initials: A
authors.lastname: Petri
authors.forename: Gianni
authors.initials: G
authors.lastname: Bona
mesh_terms: D019943:Amino Acid Substitution; D019138:Antibodies, Blocking / Q000276:immunology; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007453:Iodide Peroxidase / Q000037:antagonists & inhibitors / Q000276:immunology; D009154:Mutation / Q000235:genetics / Q000502:physiology; D020125:Mutation, Missense; D013954:Thyroglobulin / Q000037:antagonists & inhibitors / Q000276:immunology; D013960:Thyroid Function Tests; D037042:Thyroid Hormone Receptors beta / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000209:etiology* / Q000235:genetics*; D013963:Thyroid Hormones / Q000502:physiology*; D013972:Thyrotropin / Q000097:blood
chemical_list: D019138:Antibodies, Blocking; D037042:Thyroid Hormone Receptors beta; D013963:Thyroid Hormones; D013972:Thyrotropin; D013954:Thyroglobulin; D007453:Iodide Peroxidase