title: Identification of a novel mutation (A268G) in exon 8 of the HTR beta gene in a large family with thyroid hormone resistance.
authors.affiliation: Laboratory of Molecular Genetics, CHU Poruchaillou, Rennes, France.
authors.forename: P
authors.initials: P
authors.lastname: Jézéquel
authors.forename: I
authors.initials: I
authors.lastname: Guilhem
authors.forename: J P
authors.initials: JP
authors.lastname: Hespel
authors.forename: A
authors.initials: A
authors.lastname: Le Treut
authors.forename: J Y
authors.initials: JY
authors.lastname: Gall
authors.forename: H
authors.initials: H
authors.lastname: Allannic
authors.forename: M
authors.initials: M
authors.lastname: Blayau
mesh_terms: D000409:Alanine; D005091:Exons; D005260:Female; D005998:Glycine; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics*
chemical_list: D011988:Receptors, Thyroid Hormone; D000409:Alanine; D005998:Glycine