Titre:
  • Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism.
Auteur:Duprez, Laurence; Parma, Jasmine; Van Sande, Jacqueline; Allgeier, Anouk; Leclère, Jacques; Schvartz, C; Delisle, M.J.; Decoulx, M.; Orgiazzi, Jacques; Dumont, Jacques; Vassart, Gilbert
Informations sur la publication:Nature genetics, 7, 3, page (396-401)
Statut de publication:Publié, 1994-07
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Adenoma -- genetics
Adenylate Cyclase -- metabolism
Amino Acid Sequence
Animals
Base Sequence
Cell Line
Cercopithecus aethiops
Cyclic AMP -- physiology
DNA Mutational Analysis
Enzyme Activation
Female
France -- epidemiology
Genes, Dominant
Humans
Hyperthyroidism -- genetics
Male
Models, Molecular
Molecular Sequence Data
Pedigree
Point Mutation
Protein Conformation
Receptors, Thyrotropin -- chemistry
Receptors, Thyrotropin -- genetics
Receptors, Thyrotropin -- physiology
Second Messenger Systems
Thyroid Neoplasms -- genetics
Transfection
Note générale:Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
Langue:Anglais
Identificateurs:urn:issn:1061-4036
info:doi/10.1038/ng0794-396
info:scp/0028240982
info:pmid/7920658
VX-002401