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
MeSH keywords: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 générale: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:scp/9044240477
info:pmid/8636266