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
Mots-clés MeSH : 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 : 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:pmid/7920658
VX-002401