title: A new point mutation (M313T) in the thyroid hormone receptor beta gene in a patient with resistance to thyroid hormone.
abstract: Sequence analysis of the TR beta gene from a patient with the syndrome of resistance to thyroid hormone revealed a novel missense mutation in exon 9, changing thymidine in position 1123 to cytosine. The corresponding amino acid alteration is a substitution of a methionine (ATG) for a threonine (ACG) at codon 313 being the patient heterozygous for the mutation. In contrast, his parents had only the wild-type sequence, suggesting a de novo mutational event.
authors.affiliation: Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Argentina.
authors.forename: M
authors.initials: M
authors.lastname: di Fulvio
authors.forename: A E
authors.initials: AE
authors.lastname: Chiesa
authors.forename: S E
authors.initials: SE
authors.lastname: Baranzini
authors.forename: L
authors.initials: L
authors.lastname: Gruñiero-Papendieck
authors.forename: A M
authors.initials: AM
authors.lastname: Masini-Repiso
authors.forename: H M
authors.initials: HM
authors.lastname: Targovnik
mesh_terms: D002648:Child; D004247:DNA / Q000032:analysis / Q000235:genetics; D005091:Exons; D006801:Humans; D008297:Male; D008715:Methionine / Q000378:metabolism; D017354:Point Mutation / Q000235:genetics / Q000502:physiology*; D016133:Polymerase Chain Reaction; D016372:RNA, Antisense / Q000235:genetics; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D013912:Threonine / Q000378:metabolism; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics*
chemical_list: D016372:RNA, Antisense; D011988:Receptors, Thyroid Hormone; D013912:Threonine; D004247:DNA; D008715:Methionine