Titre :
  • Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia.
Auteur : Tonacchera, Massimo ; Van Sande, Jacqueline ; Cetani, Filomena ; Swillens, Stéphane ; Schvartz, C ; Winiszewski, P ; Portmann, L ; Dumont, Jacques Emile ; Vassart, Gilbert ; Parma, Jasmine
Informations sur la publication : The Journal of clinical endocrinology and metabolism, 81, 2, (page 547-554)
Statut de publication : Publié, 1996-02
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés MeSH : Amino Acid Sequence
Base Sequence
Cyclic AMP -- biosynthesis
Female
Humans
Hyperplasia -- genetics
Inositol Phosphates -- metabolism
Male
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Receptors, Thyrotropin -- genetics
Sequence Analysis, DNA
Thyroid Gland -- pathology
Thyrotropin -- metabolism
Thyrotropin -- pharmacology
Transfection
Note : Journal Article
Research Support, Non-U.S. Gov't
SCOPUS: ar.j
Langue :
  • Anglais
Identificateurs : urn:issn:0021-972X 
info:doi/10.1210/jc.81.2.547
info:pmid/8636266