Titre:
  • A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism.
Auteur:Alberti, L; Proverbio, M C; Costagliola, Sabine; Weber, G; Beck-Peccoz, P; Chiumello, G; Persani, Luca
Informations sur la publication:European journal of endocrinology, 145, 3, page (249-254)
Statut de publication:Publié, 2001-09
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Animals
COS Cells
Child, Preschool
Cloning, Molecular
Cyclic AMP -- metabolism
DNA -- blood
Female
Flow Cytometry
Gene Expression
Germ-Line Mutation
Heterozygote
Humans
Hyperthyroidism -- genetics
Mutagenesis, Site-Directed
Pedigree
Receptors, Thyrotropin -- genetics
Thyrotropin -- pharmacology
Transfection
Note générale:Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langue:Anglais
Identificateurs:urn:issn:0804-4643
info:pii/1450249
info:pmid/11517004